Materiały źródłowe

• #1 Orphanet: Medium chain acyl-CoA dehydrogenase deficiency

  https://www.orpha.net/en/disease/detail/42

  Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention. […] The estimated birth prevalence of MCADD is thought to range from 1/4,900 to 1/27,000 in Caucasian populations and is highest in individuals of Northern European descent. The worldwide birth prevalence is 1/14,600. […] MCADD is now included in newborn screening programs in many European countries such as the UK, Germany, the Netherlands, Portugal and Spain.

• #2 The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update | Genetics in Medicine

  https://www.nature.com/articles/gim200638

  The most common fatty acid oxidation disorder, medium chain acyl-CoA dehydrogenase deficiency (MCADD), has become the focal point for the adoption of tandem mass spectrometry to detect it and related inborn errors of metabolism. […] Currently available information from screening studies on the frequency of detection of MCADD in newborns, as well as the frequency of homozygotes for the common mutation in the ACADM gene, is summarized. In the United States, the average incidence of the disorder is from 1 in 15,000 to 1 in 20,000 births, with individual states reporting frequencies from 1 in 10,000 to 1 in 30,000 births. […] Systematic collection and analysis of follow-up data are still needed to ascertain the frequencies of outcomes in screened cohorts. […] The recent incorporation of medium chain acyl-CoA dehydrogenase deficiency (MCADD) in newborn screening programs has facilitated the expansion of epidemiologic knowledge of this treatable disorder.

• #3

  https://link.springer.com/article/10.1007/s10545-006-0292-1

  As judged by tandem mass spectrometry blood spot screening, the incidence of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is 1:14 600 (CI 95%: 1:13 5001:15 900) in almost 8.2 million newborns worldwide and is 2- to-3 fold higher than that identified in the same populations after clinical presentation. […] Worldwide, octanoylcarnitine levels are an effective primary screen for MCAD deficiency in newborns. […] Tandem mass spectrometry newborn blood spot screening for MCAD deficiency is accurate and effective, reduces morbidity and mortality, and merits expansion to other populations worldwide.

• #4

  https://link.springer.com/article/10.1007/s10545-006-0292-1

  As judged by tandem mass spectrometry blood spot screening, the incidence of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is 1:14 600 (CI 95%: 1:13 5001:15 900) in almost 8.2 million newborns worldwide and is 2- to-3 fold higher than that identified in the same populations after clinical presentation. […] Worldwide, octanoylcarnitine levels are an effective primary screen for MCAD deficiency in newborns. […] Tandem mass spectrometry newborn blood spot screening for MCAD deficiency is accurate and effective, reduces morbidity and mortality, and merits expansion to other populations worldwide.

• #5 The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update – PubMed

  https://pubmed.ncbi.nlm.nih.gov/16617240/

  The most common fatty acid oxidation disorder, medium chain acyl-CoA dehydrogenase deficiency (MCADD), has become the focal point for the adoption of tandem mass spectrometry to detect it and related inborn errors of metabolism. […] Currently available information from screening studies on the frequency of detection of MCADD in newborns, as well as the frequency of homozygotes for the common mutation in the ACADM gene, is summarized. […] In the United States, the average incidence of the disorder is from 1 in 15,000 to 1 in 20,000 births, with individual states reporting frequencies from 1 in 10,000 to 1 in 30,000 births. […] In addition, a systematic review was undertaken of the published literature on the frequency of mortality and developmental disabilities among children with MCADD, both in screened and unscreened cohorts. […] It seems that in the absence of newborn screening for MCADD, premature death or serious disability occurs in 20% to 25% of children with the disorder. […] Systematic collection and analysis of follow-up data are still needed to ascertain the frequencies of outcomes in screened cohorts.

• #6 The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update | Genetics in Medicine

  https://www.nature.com/articles/gim200638

  The most common fatty acid oxidation disorder, medium chain acyl-CoA dehydrogenase deficiency (MCADD), has become the focal point for the adoption of tandem mass spectrometry to detect it and related inborn errors of metabolism. […] Currently available information from screening studies on the frequency of detection of MCADD in newborns, as well as the frequency of homozygotes for the common mutation in the ACADM gene, is summarized. In the United States, the average incidence of the disorder is from 1 in 15,000 to 1 in 20,000 births, with individual states reporting frequencies from 1 in 10,000 to 1 in 30,000 births. […] Systematic collection and analysis of follow-up data are still needed to ascertain the frequencies of outcomes in screened cohorts. […] The recent incorporation of medium chain acyl-CoA dehydrogenase deficiency (MCADD) in newborn screening programs has facilitated the expansion of epidemiologic knowledge of this treatable disorder.

• #7 Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (MCADD): Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/946755-overview

  Inherited as an autosomal recessive trait, MCAD deficiency was found in at least one series, which used a population-screening technique, to occur in approximately 1 in every 8500 live births. […] This figure seems somewhat high, but the true incidence rate is almost certainly among the highest of the inborn errors of metabolism, rivaling that of phenylketonuria. In part because of the supposed frequency of the disorder, nationwide debate has resulted in many states adding MCAD to their existing newborn metabolic screening programs. […] The application of tandem mass spectrometry to newborn metabolic screening in many other countries throughout the world has supplied a better understanding of the worldwide incidence of MCAD deficiency. […] The average incidence rate among more than 8 million babies was 1 per 14,600 live births, with a range of 1 per 13,500 to 1 per 15,900. […] Early diagnosis is imperative because serious morbidity and mortality is associated with initial onset in more than 25% of undiagnosed individuals.

• #8 Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Full Gene Analysis, Varies – Mayo Clinic Laboratories | Genetics and Genomics

  https://genetics.testcatalog.org/show/MCADZ

  Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is prevalent among individuals of northern European origin, affecting 1 in 4900 to 1 in 17,000 individuals, with a carrier frequency estimated as high as 1 in 40 for some populations. […] Review of clinical features and biochemical analysis via plasma acylcarnitines (ACRN / Acylcarnitines, Quantitative, Plasma), fatty acid profile (FAO / Fatty Acid Oxidation Probe Assay, Fibroblast Culture), urine organic acids (OAU / Organic Acids Screen, Random, Urine), and urine acylglycines (ACYLG / Acylglycines, Quantitative, Urine) are always recommended as the initial evaluation for MCAD. […] The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update.

• #9 MCADZ – Overview: Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Full Gene Analysis, Varies

  https://www.mayocliniclabs.com/test-catalog/overview/35478

  Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is prevalent among individuals of northern European origin, affecting 1 in 4900 to 1 in 17,000 individuals, with a carrier frequency estimated as high as 1 in 40 for some populations. […] Review of clinical features and biochemical analysis via plasma acylcarnitines (ACRN / Acylcarnitines, Quantitative, Plasma), fatty acid profile (FAO / Fatty Acid Oxidation Probe Assay, Fibroblast Culture), urine organic acids (OAU / Organic Acids Screen, Random, Urine), and urine acylglycines (ACYLG / Acylglycines, Quantitative, Urine) are always recommended as the initial evaluation for MCAD. […] The MCAD gene (ACADM) maps to 1p31 and has 12 exons, spanning 44 kb of DNA. Most variants are family-specific with the exception of the recurrent A->G transition at nucleotide 985 (985A->G). Among MCAD-deficient patients, approximately 52% are homozygous for the 985A->G pathogenic variant. The majority of the remaining patients are compound heterozygous for the 985A->G pathogenic variant and a different pathogenic variant.

• #10 The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study | European Journal of Human Genetics

  https://www.nature.com/articles/5201428

  Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency is assumed to be the most common inherited disorder of mitochondrial fatty acid oxidation. […] In this study, the observed prevalence of MCAD deficiency in The Netherlands was 1/27400 (95% confidence interval (CI) 1/23000-1/33900), significantly different from the expected prevalence of 1/12100 (95% CI 1/8450-1/18500). […] The observed prevalence of MCAD deficiency showed a remarkable north-south trend within the country. […] From the clinical information and family characteristics of MCAD-deficient patients, possible explanations for the discrepancy between the expected and observed prevalence of MCAD deficiency are investigated. […] The observed prevalence of MCAD deficiency in The Netherlands was compared with the expected prevalence among newborns based on previously found allele frequencies.

• #11 The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update | Genetics in Medicine

  https://www.nature.com/articles/gim200638

  The prevalence of clinically diagnosed MCADD among cohorts of children in geographically defined populations was 1 in 30,900 in England; 1 in 42,200 in German states not using MS/MS newborn screening; and 1 in 47,300 in New South Wales, Australia, from 1990 to 1994. […] In the United States, MCADD seems even less likely to be diagnosed in the absence of newborn screening. […] The baseline for calculating the potential benefits of newborn screening is the natural history of the disorder. […] Newborn screening for MCADD clearly prevents death and disability in many children with the disorder. […] We conservatively project that one in six children born with MCADD will die in childhood in the absence of screening. […] Without early asymptomatic detection, at least half of children with MCADD will experience a metabolic crisis, and up to 1 in 10 survivors will develop a serious developmental disability. […] Conservatively, between one in five and one in four children with MCADD will experience death or severe disability without newborn screening for the disorder.

• #12 The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update | Genetics in Medicine

  https://www.nature.com/articles/gim200638

  The prevalence of clinically diagnosed MCADD among cohorts of children in geographically defined populations was 1 in 30,900 in England; 1 in 42,200 in German states not using MS/MS newborn screening; and 1 in 47,300 in New South Wales, Australia, from 1990 to 1994. […] In the United States, MCADD seems even less likely to be diagnosed in the absence of newborn screening. […] The baseline for calculating the potential benefits of newborn screening is the natural history of the disorder. […] Newborn screening for MCADD clearly prevents death and disability in many children with the disorder. […] We conservatively project that one in six children born with MCADD will die in childhood in the absence of screening. […] Without early asymptomatic detection, at least half of children with MCADD will experience a metabolic crisis, and up to 1 in 10 survivors will develop a serious developmental disability. […] Conservatively, between one in five and one in four children with MCADD will experience death or severe disability without newborn screening for the disorder.

• #13 The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update | Genetics in Medicine

  https://www.nature.com/articles/gim200638

  The prevalence of clinically diagnosed MCADD among cohorts of children in geographically defined populations was 1 in 30,900 in England; 1 in 42,200 in German states not using MS/MS newborn screening; and 1 in 47,300 in New South Wales, Australia, from 1990 to 1994. […] In the United States, MCADD seems even less likely to be diagnosed in the absence of newborn screening. […] The baseline for calculating the potential benefits of newborn screening is the natural history of the disorder. […] Newborn screening for MCADD clearly prevents death and disability in many children with the disorder. […] We conservatively project that one in six children born with MCADD will die in childhood in the absence of screening. […] Without early asymptomatic detection, at least half of children with MCADD will experience a metabolic crisis, and up to 1 in 10 survivors will develop a serious developmental disability. […] Conservatively, between one in five and one in four children with MCADD will experience death or severe disability without newborn screening for the disorder.

• #14

  https://europepmc.org/books/n/statpearls/article-24897/?extid=31082016&src=med

  Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare autosomal recessive disorder characterized by mitochondrial fatty acid -oxidation impairment, leading to severe metabolic consequences. […] The estimated prevalence of MCADD is 1 in 50,000 live births globally. The prevalence of MCADD in North America and northern Europe is between 1 in every 5,000 individuals and 1 out of every 20,000 individuals. […] Among Asian populations, the incidence of MCADD is relatively low. The estimated incidence of this disease in Japan is 1 in 100,000 patients, and in China, around 1 out of 80,332 to 1 out of every 282,591 patients. […] NBS has led to an apparent increase in the incidence of this disease due to the detection of milder cases. […] A large-scale prospective study of MCADD detected via NBS from the United Kingdom, where the cohort consisted of multiple different ethnicities, reported an incidence of approximately 1 in 10,000 babies.

• #15

  https://omim.org/entry/201450

  In a meta-regression analysis of 43 studies reporting the frequency of the c.985A-G mutation in over 10 million individuals, Leal et al. (2014) found significant variation in the frequency of the mutation across regions […] The proportion of individuals homozygous for the mutation was highest in western Europe (4.1 per 100,000), followed by the New World, including the United States, Canada, and Australia (3.2), southern Europe (1.2), and eastern Europe (0.9) […] No cases with the mutation were identified in Asia or the Middle East […] The findings were consistent with a founder effect originating in northern Europe.

• #16

  https://omim.org/entry/201450

  In a meta-regression analysis of 43 studies reporting the frequency of the c.985A-G mutation in over 10 million individuals, Leal et al. (2014) found significant variation in the frequency of the mutation across regions […] The proportion of individuals homozygous for the mutation was highest in western Europe (4.1 per 100,000), followed by the New World, including the United States, Canada, and Australia (3.2), southern Europe (1.2), and eastern Europe (0.9) […] No cases with the mutation were identified in Asia or the Middle East […] The findings were consistent with a founder effect originating in northern Europe.

• #17 The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study | European Journal of Human Genetics

  https://www.nature.com/articles/5201428

  Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency is assumed to be the most common inherited disorder of mitochondrial fatty acid oxidation. […] In this study, the observed prevalence of MCAD deficiency in The Netherlands was 1/27400 (95% confidence interval (CI) 1/23000-1/33900), significantly different from the expected prevalence of 1/12100 (95% CI 1/8450-1/18500). […] The observed prevalence of MCAD deficiency showed a remarkable north-south trend within the country. […] From the clinical information and family characteristics of MCAD-deficient patients, possible explanations for the discrepancy between the expected and observed prevalence of MCAD deficiency are investigated. […] The observed prevalence of MCAD deficiency in The Netherlands was compared with the expected prevalence among newborns based on previously found allele frequencies.

• #18 Medium-chain acyl-CoA dehydrogenase deficiency – Genomics Education Programme

  https://www.genomicseducation.hee.nhs.uk/documents/medium-chain-acyl-coa-dehydrogenase-deficiency/

  MCADD has a worldwide birth prevalence of 1 in 15,000, however this is higher in northern European populations (for example, 1 in 8,500 in the Netherlands). […] The carrier frequency of this pathogenic variant in Northern European populations is between 1 in 40 and 1 in 100. This high frequency means that genetic testing should be offered to reproductive partners of patients with MCADD.

• #19 MCADZ – Overview: Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Full Gene Analysis, Varies

  https://www.mayocliniclabs.com/test-catalog/overview/35478

  Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is prevalent among individuals of northern European origin, affecting 1 in 4900 to 1 in 17,000 individuals, with a carrier frequency estimated as high as 1 in 40 for some populations. […] Review of clinical features and biochemical analysis via plasma acylcarnitines (ACRN / Acylcarnitines, Quantitative, Plasma), fatty acid profile (FAO / Fatty Acid Oxidation Probe Assay, Fibroblast Culture), urine organic acids (OAU / Organic Acids Screen, Random, Urine), and urine acylglycines (ACYLG / Acylglycines, Quantitative, Urine) are always recommended as the initial evaluation for MCAD. […] The MCAD gene (ACADM) maps to 1p31 and has 12 exons, spanning 44 kb of DNA. Most variants are family-specific with the exception of the recurrent A->G transition at nucleotide 985 (985A->G). Among MCAD-deficient patients, approximately 52% are homozygous for the 985A->G pathogenic variant. The majority of the remaining patients are compound heterozygous for the 985A->G pathogenic variant and a different pathogenic variant.

• #20 Medium-chain acyl-CoA dehydrogenase deficiency – Genomics Education Programme

  https://www.genomicseducation.hee.nhs.uk/documents/medium-chain-acyl-coa-dehydrogenase-deficiency/

  MCADD has a worldwide birth prevalence of 1 in 15,000, however this is higher in northern European populations (for example, 1 in 8,500 in the Netherlands). […] The carrier frequency of this pathogenic variant in Northern European populations is between 1 in 40 and 1 in 100. This high frequency means that genetic testing should be offered to reproductive partners of patients with MCADD.

• #21 Medium-Chain Acyl-CoA Dehydrogenase Deficiency | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/24897

  The combined incidence of all FAODs ranges between 0.9 to 15.2 per 100,000 individuals. The reported incidence of FAODs in European countries and the United States ranges from 6.0 to 16.4 per 100,000 individuals, primarily attributed to the high incidence of MCADD in these countries. […] The estimated prevalence of MCADD is 1 in 50,000 live births globally. The prevalence of MCADD in North America and northern Europe is between 1 in every 5,000 individuals and 1 out of every 20,000 individuals. […] Among Asian populations, the incidence of MCADD is relatively low. The estimated incidence of this disease in Japan is 1 in 100,000 patients, and in China, around 1 out of 80,332 to 1 out of every 282,591 patients. […] NBS has led to an apparent increase in the incidence of this disease due to the detection of milder cases. A large-scale prospective study of MCADD detected via NBS from the United Kingdom, where the cohort consisted of multiple different ethnicities, reported an incidence of approximately 1 in 10,000 babies.

• #22 Screening for medium-chain acyl CoA dehydrogenase deficiency: current | RRN

  https://www.dovepress.com/screening-for-medium-chain-acyl-coa-dehydrogenase-deficiency-current-p-peer-reviewed-fulltext-article-RRN

  The introduction of tandem mass spectrometry (MS/MS) NBS programs in the 1990s have helped to reduce metabolic crisis and death in MCAD deficiency. […] Previous published experience with NBS and MCAD deficiency worldwide includes England, Australia, France, the Netherlands, Denmark, Portugal, Australia, Canada, and USA, among others. […] While comparison among different programs is difficult due to different detection rates, it is clear that NBS reduces clinical manifestations and death in the MCAD-deficient population. […] The goal of NBS is to identify affected infants before they have an acute episode and implement simple interventions such as avoidance of fasting as the mainstay of treatment. […] The availability of simple intervention such as avoidance of fasting makes MCAD deficiency an excellent candidate for early detection by NBS programs.

• #23 Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

  https://www.mdpi.com/2409-515X/1/3/79

  Together with phenylketonuria, MCADD is the metabolic disorder most frequently diagnosed in neonatal screening. […] Identification of MCADD individuals by MS/MS-based neonatal screening revealed an at least 2-fold to 3-fold higher incidence than expected, ranging from 1 in 8500 to 1 in 17,500. […] The incidence and the mutational spectrum of MCADD vary with the racial and ethnic composition of the population screened. […] Neonatal screening for MCADD has been shown to be an effective means to reduce the occurrence of severe episodes of decompensation and death compared to unscreened populations. […] Despite early detection of MCADD by neonatal screening, 13 patients have been reported to die during intercurrent illness. […] No clinical cases of MCADD are known to have been missed by neonatal screening to date.

• #24

  https://europepmc.org/books/n/statpearls/article-24897/?extid=31082016&src=med

  Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare autosomal recessive disorder characterized by mitochondrial fatty acid -oxidation impairment, leading to severe metabolic consequences. […] The estimated prevalence of MCADD is 1 in 50,000 live births globally. The prevalence of MCADD in North America and northern Europe is between 1 in every 5,000 individuals and 1 out of every 20,000 individuals. […] Among Asian populations, the incidence of MCADD is relatively low. The estimated incidence of this disease in Japan is 1 in 100,000 patients, and in China, around 1 out of 80,332 to 1 out of every 282,591 patients. […] NBS has led to an apparent increase in the incidence of this disease due to the detection of milder cases. […] A large-scale prospective study of MCADD detected via NBS from the United Kingdom, where the cohort consisted of multiple different ethnicities, reported an incidence of approximately 1 in 10,000 babies.

• #25 Merged Actionability Release – Clinical Genome Resources

  https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1016

  Prevalence of the Genetic Condition Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is the most common inborn error of metabolism and occurs in an estimated 5.3 (99% CI: 4.1-6.7) per 100,000 births. […] In the US, prevalence ranges from 1/13,000 to 1/19,000 live births. […] Estimates for incidence across the world are 1/51,000 in Japan, 1/18,000 in Saudi Arabia, 1/263,500 in Taiwan, 1/19,000 in New South Wales of Australia, 1/4900 in northern Germany, 1/24,900 in Austria, 1/23,000 in central Italy, and 1/23,400 in Canada. […] Newborn screening followed by confirmatory variant analysis of 519,350 newborns in Denmark estimates the incidence of MCAD deficiency as 1/8954. This estimate is four times higher than the incidence of 1/39,691 of clinically presenting cases during the 10-year period prior to initiation of newborn screening. […] Most children with MCAD deficiency are diagnosed through newborn screening. However, affected children have often been misdiagnosed as having Reye syndrome or episodic hypoglycemic coma.

• #26

  https://link.springer.com/article/10.1007/s00431-022-04421-y

  Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is the most common disorder of mitochondrial -oxidation of fatty acids resulting in hypoketotic hypoglycemia, hepatopathy, and often fatal outcome in undiagnosed children. […] Introduction of tandem mass spectrometry-based newborn screening programs in the late 1990s has significantly reduced morbidity and mortality in MCAD deficiency; however, neonatal death in individuals with early disease manifestation and severe hypoglycemia may still occur. […] Early newborn screening and awareness for clinical symptoms is lifesaving in MCAD deficiency, which may present with fatal neonatal crisis. Systematic post-mortem diagnostic protocols are needed for sudden neonatal deaths. […] According to published data from the German NBS program (annual reports of the DGNS) 9,941,846 newborns were screened in Germany from 2005 to 2018. In 968 of them, MCAD deficiency was confirmed after positive NBS. This revealed a birth prevalence of about 1 in 10,300 newborns, in line with previous reports, and an overall neonatal MCAD mortality rate of 0.6%.

• #27 The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update – PubMed

  https://pubmed.ncbi.nlm.nih.gov/16617240/

  The most common fatty acid oxidation disorder, medium chain acyl-CoA dehydrogenase deficiency (MCADD), has become the focal point for the adoption of tandem mass spectrometry to detect it and related inborn errors of metabolism. […] Currently available information from screening studies on the frequency of detection of MCADD in newborns, as well as the frequency of homozygotes for the common mutation in the ACADM gene, is summarized. […] In the United States, the average incidence of the disorder is from 1 in 15,000 to 1 in 20,000 births, with individual states reporting frequencies from 1 in 10,000 to 1 in 30,000 births. […] In addition, a systematic review was undertaken of the published literature on the frequency of mortality and developmental disabilities among children with MCADD, both in screened and unscreened cohorts. […] It seems that in the absence of newborn screening for MCADD, premature death or serious disability occurs in 20% to 25% of children with the disorder. […] Systematic collection and analysis of follow-up data are still needed to ascertain the frequencies of outcomes in screened cohorts.

• #28 The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update | Genetics in Medicine

  https://www.nature.com/articles/gim200638

  The prevalence of clinically diagnosed MCADD among cohorts of children in geographically defined populations was 1 in 30,900 in England; 1 in 42,200 in German states not using MS/MS newborn screening; and 1 in 47,300 in New South Wales, Australia, from 1990 to 1994. […] In the United States, MCADD seems even less likely to be diagnosed in the absence of newborn screening. […] The baseline for calculating the potential benefits of newborn screening is the natural history of the disorder. […] Newborn screening for MCADD clearly prevents death and disability in many children with the disorder. […] We conservatively project that one in six children born with MCADD will die in childhood in the absence of screening. […] Without early asymptomatic detection, at least half of children with MCADD will experience a metabolic crisis, and up to 1 in 10 survivors will develop a serious developmental disability. […] Conservatively, between one in five and one in four children with MCADD will experience death or severe disability without newborn screening for the disorder.

• #29 Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

  https://www.mdpi.com/2409-515X/1/3/79

  MCADD leads to a significant morbidity and mortality in undiagnosed patients. Approximately 25% of children with MCADD die during their first metabolic decompensation, and 10% to 30% of the survivors show neurological impairment or developmental delay. […] Once diagnosed, follow-up data on symptomatic MCADD patients showed that severe metabolic crisis and death could be prevented by counseling to avoid fasting and by providing emergency procedures (treatment plans) during intercurrent illness. […] In the 1990’s, the increasing availability of tandem mass spectrometry (MS/MS)-based technologies facilitated the diagnosis of MCADD and rendered neonatal screening by analysis of acylcarnitines in dried blot spots feasible. Meeting most of the criteria devised by Wilson and Jungner 1968 at the World Health Organisation, neonatal screening for MCADD has been implemented in many newborn screening programs worldwide.

• #30 Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

  https://www.mdpi.com/2409-515X/1/3/79

  MCADD leads to a significant morbidity and mortality in undiagnosed patients. Approximately 25% of children with MCADD die during their first metabolic decompensation, and 10% to 30% of the survivors show neurological impairment or developmental delay. […] Once diagnosed, follow-up data on symptomatic MCADD patients showed that severe metabolic crisis and death could be prevented by counseling to avoid fasting and by providing emergency procedures (treatment plans) during intercurrent illness. […] In the 1990’s, the increasing availability of tandem mass spectrometry (MS/MS)-based technologies facilitated the diagnosis of MCADD and rendered neonatal screening by analysis of acylcarnitines in dried blot spots feasible. Meeting most of the criteria devised by Wilson and Jungner 1968 at the World Health Organisation, neonatal screening for MCADD has been implemented in many newborn screening programs worldwide.

• #31 The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update | Genetics in Medicine

  https://www.nature.com/articles/gim200638

  The prevalence of clinically diagnosed MCADD among cohorts of children in geographically defined populations was 1 in 30,900 in England; 1 in 42,200 in German states not using MS/MS newborn screening; and 1 in 47,300 in New South Wales, Australia, from 1990 to 1994. […] In the United States, MCADD seems even less likely to be diagnosed in the absence of newborn screening. […] The baseline for calculating the potential benefits of newborn screening is the natural history of the disorder. […] Newborn screening for MCADD clearly prevents death and disability in many children with the disorder. […] We conservatively project that one in six children born with MCADD will die in childhood in the absence of screening. […] Without early asymptomatic detection, at least half of children with MCADD will experience a metabolic crisis, and up to 1 in 10 survivors will develop a serious developmental disability. […] Conservatively, between one in five and one in four children with MCADD will experience death or severe disability without newborn screening for the disorder.

• #32 The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update | Genetics in Medicine

  https://www.nature.com/articles/gim200638

  The prevalence of clinically diagnosed MCADD among cohorts of children in geographically defined populations was 1 in 30,900 in England; 1 in 42,200 in German states not using MS/MS newborn screening; and 1 in 47,300 in New South Wales, Australia, from 1990 to 1994. […] In the United States, MCADD seems even less likely to be diagnosed in the absence of newborn screening. […] The baseline for calculating the potential benefits of newborn screening is the natural history of the disorder. […] Newborn screening for MCADD clearly prevents death and disability in many children with the disorder. […] We conservatively project that one in six children born with MCADD will die in childhood in the absence of screening. […] Without early asymptomatic detection, at least half of children with MCADD will experience a metabolic crisis, and up to 1 in 10 survivors will develop a serious developmental disability. […] Conservatively, between one in five and one in four children with MCADD will experience death or severe disability without newborn screening for the disorder.

• #33 Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

  https://www.mdpi.com/2409-515X/1/3/79

  Together with phenylketonuria, MCADD is the metabolic disorder most frequently diagnosed in neonatal screening. […] Identification of MCADD individuals by MS/MS-based neonatal screening revealed an at least 2-fold to 3-fold higher incidence than expected, ranging from 1 in 8500 to 1 in 17,500. […] The incidence and the mutational spectrum of MCADD vary with the racial and ethnic composition of the population screened. […] Neonatal screening for MCADD has been shown to be an effective means to reduce the occurrence of severe episodes of decompensation and death compared to unscreened populations. […] Despite early detection of MCADD by neonatal screening, 13 patients have been reported to die during intercurrent illness. […] No clinical cases of MCADD are known to have been missed by neonatal screening to date.

• #34

  https://link.springer.com/article/10.1007/s00431-022-04421-y

  Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is the most common disorder of mitochondrial -oxidation of fatty acids resulting in hypoketotic hypoglycemia, hepatopathy, and often fatal outcome in undiagnosed children. […] Introduction of tandem mass spectrometry-based newborn screening programs in the late 1990s has significantly reduced morbidity and mortality in MCAD deficiency; however, neonatal death in individuals with early disease manifestation and severe hypoglycemia may still occur. […] Early newborn screening and awareness for clinical symptoms is lifesaving in MCAD deficiency, which may present with fatal neonatal crisis. Systematic post-mortem diagnostic protocols are needed for sudden neonatal deaths. […] According to published data from the German NBS program (annual reports of the DGNS) 9,941,846 newborns were screened in Germany from 2005 to 2018. In 968 of them, MCAD deficiency was confirmed after positive NBS. This revealed a birth prevalence of about 1 in 10,300 newborns, in line with previous reports, and an overall neonatal MCAD mortality rate of 0.6%.

• #35 The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update | Genetics in Medicine

  https://www.nature.com/articles/gim200638

  As of June 2005, screening for MCADD had been implemented in 32 states, and implementation planned in 5 additional states. […] Despite the increase in screening, understanding of the natural history of unscreened MCADD remains limited. […] The major preventable outcomes of concern are death and intellectual disability. […] The frequency of death in untreated MCADD is said to be as high as 50% or as low as 2%. […] Accurate assessment of the incidence of MCADD requires analysis of test results from a birth cohort representative of a geographic population. […] The estimated frequency of MCADD at birth ranges from 1 in 10,000 to 1 in 27,000 among populations of mostly European descent and is less common in populations of non-European origin. […] Because of variable and nonspecific clinical presentation, MCADD often is not recognized and, consequently, is underdiagnosed at the population level in the absence of screening.

• #36 The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update | Genetics in Medicine

  https://www.nature.com/articles/gim200638

  As of June 2005, screening for MCADD had been implemented in 32 states, and implementation planned in 5 additional states. […] Despite the increase in screening, understanding of the natural history of unscreened MCADD remains limited. […] The major preventable outcomes of concern are death and intellectual disability. […] The frequency of death in untreated MCADD is said to be as high as 50% or as low as 2%. […] Accurate assessment of the incidence of MCADD requires analysis of test results from a birth cohort representative of a geographic population. […] The estimated frequency of MCADD at birth ranges from 1 in 10,000 to 1 in 27,000 among populations of mostly European descent and is less common in populations of non-European origin. […] Because of variable and nonspecific clinical presentation, MCADD often is not recognized and, consequently, is underdiagnosed at the population level in the absence of screening.

• #37 Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1276-1

  Substantial heterogeneity exists in the outcomes reported in the MCAD deficiency and PKU literature and a diversity of outcome measurement instruments was used to measure many of these outcomes. This lack of consistency impedes comparisons among studies and limits the potential for data synthesis, leading to inefficient use of limited resources available for evaluating the effectiveness of new and existing interventions. Our findings suggest that future studies of the effectiveness and comparative effectiveness of interventions for pediatric MCAD deficiency and PKU would benefit from disease-specific COSs.

• #38 Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1276-1

  Heterogeneity of reported outcomes and outcome measurement instruments across published studies for both MCAD deficiency and PKU highlights the need for COSs for these diseases, to promote the use of meaningful outcomes and facilitate comparisons across studies. […] Inherited metabolic diseases (IMD) are a large group of single-gene diseases that are individually rare but when aggregated have an estimated global birth prevalence of 50.9 in 100,000 live births. […] Trials are less common and more challenging to implement for rare diseases relative to common diseases in part due to the difficulties in assembling a large enough cohort of patients to obtain adequate statistical power. […] Our findings suggest that evaluative studies of interventions for MCAD deficiency and PKU would benefit from COSs given the multitude of outcomes in the literature.

• #39 The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update | Genetics in Medicine

  https://www.nature.com/articles/gim200638

  The most common fatty acid oxidation disorder, medium chain acyl-CoA dehydrogenase deficiency (MCADD), has become the focal point for the adoption of tandem mass spectrometry to detect it and related inborn errors of metabolism. […] Currently available information from screening studies on the frequency of detection of MCADD in newborns, as well as the frequency of homozygotes for the common mutation in the ACADM gene, is summarized. In the United States, the average incidence of the disorder is from 1 in 15,000 to 1 in 20,000 births, with individual states reporting frequencies from 1 in 10,000 to 1 in 30,000 births. […] Systematic collection and analysis of follow-up data are still needed to ascertain the frequencies of outcomes in screened cohorts. […] The recent incorporation of medium chain acyl-CoA dehydrogenase deficiency (MCADD) in newborn screening programs has facilitated the expansion of epidemiologic knowledge of this treatable disorder.

• #40 Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

  https://www.mdpi.com/2409-515X/1/3/79

  Together with phenylketonuria, MCADD is the metabolic disorder most frequently diagnosed in neonatal screening. […] Identification of MCADD individuals by MS/MS-based neonatal screening revealed an at least 2-fold to 3-fold higher incidence than expected, ranging from 1 in 8500 to 1 in 17,500. […] The incidence and the mutational spectrum of MCADD vary with the racial and ethnic composition of the population screened. […] Neonatal screening for MCADD has been shown to be an effective means to reduce the occurrence of severe episodes of decompensation and death compared to unscreened populations. […] Despite early detection of MCADD by neonatal screening, 13 patients have been reported to die during intercurrent illness. […] No clinical cases of MCADD are known to have been missed by neonatal screening to date.

• #41 Orphanet: Medium chain acyl-CoA dehydrogenase deficiency

  https://www.orpha.net/en/disease/detail/42

  Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention. […] The estimated birth prevalence of MCADD is thought to range from 1/4,900 to 1/27,000 in Caucasian populations and is highest in individuals of Northern European descent. The worldwide birth prevalence is 1/14,600. […] MCADD is now included in newborn screening programs in many European countries such as the UK, Germany, the Netherlands, Portugal and Spain.

• #42 MCAD deficiency – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/mcad-deficiency/symptoms-causes/syc-20353745

  MCAD deficiency is present from birth and is a lifelong condition. In the United States, all states test for MCAD deficiency at birth as part of newborn screening. Many other countries also provide routine newborn screening for MCAD deficiency. […] In the United States and many other countries, newborn screening programs test for MCAD deficiency. After your first evaluation, you may be referred to a specialist in evaluating and treating MCAD deficiency.

• #43 The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update | Genetics in Medicine

  https://www.nature.com/articles/gim200638

  As of June 2005, screening for MCADD had been implemented in 32 states, and implementation planned in 5 additional states. […] Despite the increase in screening, understanding of the natural history of unscreened MCADD remains limited. […] The major preventable outcomes of concern are death and intellectual disability. […] The frequency of death in untreated MCADD is said to be as high as 50% or as low as 2%. […] Accurate assessment of the incidence of MCADD requires analysis of test results from a birth cohort representative of a geographic population. […] The estimated frequency of MCADD at birth ranges from 1 in 10,000 to 1 in 27,000 among populations of mostly European descent and is less common in populations of non-European origin. […] Because of variable and nonspecific clinical presentation, MCADD often is not recognized and, consequently, is underdiagnosed at the population level in the absence of screening.

• #44 Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

  https://www.mdpi.com/2409-515X/1/3/79

  Together with phenylketonuria, MCADD is the metabolic disorder most frequently diagnosed in neonatal screening. […] Identification of MCADD individuals by MS/MS-based neonatal screening revealed an at least 2-fold to 3-fold higher incidence than expected, ranging from 1 in 8500 to 1 in 17,500. […] The incidence and the mutational spectrum of MCADD vary with the racial and ethnic composition of the population screened. […] Neonatal screening for MCADD has been shown to be an effective means to reduce the occurrence of severe episodes of decompensation and death compared to unscreened populations. […] Despite early detection of MCADD by neonatal screening, 13 patients have been reported to die during intercurrent illness. […] No clinical cases of MCADD are known to have been missed by neonatal screening to date.

• #45 Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

  https://www.mdpi.com/2409-515X/1/3/79

  Together with phenylketonuria, MCADD is the metabolic disorder most frequently diagnosed in neonatal screening. […] Identification of MCADD individuals by MS/MS-based neonatal screening revealed an at least 2-fold to 3-fold higher incidence than expected, ranging from 1 in 8500 to 1 in 17,500. […] The incidence and the mutational spectrum of MCADD vary with the racial and ethnic composition of the population screened. […] Neonatal screening for MCADD has been shown to be an effective means to reduce the occurrence of severe episodes of decompensation and death compared to unscreened populations. […] Despite early detection of MCADD by neonatal screening, 13 patients have been reported to die during intercurrent illness. […] No clinical cases of MCADD are known to have been missed by neonatal screening to date.

• #46 Screening for medium-chain acyl CoA dehydrogenase deficiency: current | RRN

  https://www.dovepress.com/screening-for-medium-chain-acyl-coa-dehydrogenase-deficiency-current-p-peer-reviewed-fulltext-article-RRN

  The introduction of tandem mass spectrometry (MS/MS) NBS programs in the 1990s have helped to reduce metabolic crisis and death in MCAD deficiency. […] Previous published experience with NBS and MCAD deficiency worldwide includes England, Australia, France, the Netherlands, Denmark, Portugal, Australia, Canada, and USA, among others. […] While comparison among different programs is difficult due to different detection rates, it is clear that NBS reduces clinical manifestations and death in the MCAD-deficient population. […] The goal of NBS is to identify affected infants before they have an acute episode and implement simple interventions such as avoidance of fasting as the mainstay of treatment. […] The availability of simple intervention such as avoidance of fasting makes MCAD deficiency an excellent candidate for early detection by NBS programs.

• #47 Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1001-0

  We describe early health services utilization for children diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency through newborn screening in Ontario, Canada, relative to a screen negative comparison cohort. […] Throughout the first few years of life, children with MCAD deficiency experienced statistically significantly higher rates of physician encounters, ED visits, and hospital stays compared with the screen negative cohort. […] This study confirms that young children with MCAD deficiency use health services more frequently than the general population throughout the first few years of life. Rates of service use in this population gradually diminish after 24 months of age. […] Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a fatty acid beta-oxidation disorder with an estimated birth prevalence of approximately 1:5000 to 1:20,000 in North America and northern Europe.

• #48 Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1001-0

  We describe early health services utilization for children diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency through newborn screening in Ontario, Canada, relative to a screen negative comparison cohort. […] Throughout the first few years of life, children with MCAD deficiency experienced statistically significantly higher rates of physician encounters, ED visits, and hospital stays compared with the screen negative cohort. […] This study confirms that young children with MCAD deficiency use health services more frequently than the general population throughout the first few years of life. Rates of service use in this population gradually diminish after 24 months of age. […] Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a fatty acid beta-oxidation disorder with an estimated birth prevalence of approximately 1:5000 to 1:20,000 in North America and northern Europe.

• #49 Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1001-0

  The higher rate of physician encounters from birth to 1 year of age that we observed among children with MCAD deficiency relative to the screen negative cohort might be partially explained by visits required for diagnostic evaluation following a positive newborn screening result. […] The relatively high use of services in this population reflects the direct costs of effective disease management. […] These findings are important for understanding the impact of this rare inherited metabolic disease on families, healthcare providers, and systems of care. […] Families of children with MCAD deficiency can be reassured that ED visit rates declined after age two, to less than one visit per year on average by age three, corroborating and extending newborn screening long-term follow-up studies. […] This study confirms that young children with MCAD deficiency use health services at higher rates relative to children in the general population. However, reassuringly, rates of health service use gradually diminish in this population after 24 months of age.

• #50 Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1001-0

  The higher rate of physician encounters from birth to 1 year of age that we observed among children with MCAD deficiency relative to the screen negative cohort might be partially explained by visits required for diagnostic evaluation following a positive newborn screening result. […] The relatively high use of services in this population reflects the direct costs of effective disease management. […] These findings are important for understanding the impact of this rare inherited metabolic disease on families, healthcare providers, and systems of care. […] Families of children with MCAD deficiency can be reassured that ED visit rates declined after age two, to less than one visit per year on average by age three, corroborating and extending newborn screening long-term follow-up studies. […] This study confirms that young children with MCAD deficiency use health services at higher rates relative to children in the general population. However, reassuringly, rates of health service use gradually diminish in this population after 24 months of age.

• #51 Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

  https://www.mdpi.com/2409-515X/1/3/79

  By implication, neonatal screening for MCADD produces substantial costs for health care systems. Its cost-effectiveness, however, has been shown to be comparable with well-accepted pediatric health interventions such as routine vaccinations. […] Neonatal screening revealed an unexpectedly high incidence of individuals with acylcarnitine patterns indicative of MCADD. Thus, screening programs and health professionals needed to establish diagnostic strategies on who should be regarded as confirmed MCADD cases. […] To date, all individuals with MCADD detected by neonatal screening are advised to avoid prolonged fasting and to follow disease management plans in case of intercurrent illness, irrespective of the underlying genotype or biochemical phenotype. […] The major clinical challenge in future MCADD screening will be to establish a risk stratification to avoid this burden for individuals who might need less treatment, or no treatment at all.

• #52 Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

  https://www.mdpi.com/2409-515X/1/3/79

  By implication, neonatal screening for MCADD produces substantial costs for health care systems. Its cost-effectiveness, however, has been shown to be comparable with well-accepted pediatric health interventions such as routine vaccinations. […] Neonatal screening revealed an unexpectedly high incidence of individuals with acylcarnitine patterns indicative of MCADD. Thus, screening programs and health professionals needed to establish diagnostic strategies on who should be regarded as confirmed MCADD cases. […] To date, all individuals with MCADD detected by neonatal screening are advised to avoid prolonged fasting and to follow disease management plans in case of intercurrent illness, irrespective of the underlying genotype or biochemical phenotype. […] The major clinical challenge in future MCADD screening will be to establish a risk stratification to avoid this burden for individuals who might need less treatment, or no treatment at all.

• #53 Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

  https://www.mdpi.com/2409-515X/1/3/79

  By implication, neonatal screening for MCADD produces substantial costs for health care systems. Its cost-effectiveness, however, has been shown to be comparable with well-accepted pediatric health interventions such as routine vaccinations. […] Neonatal screening revealed an unexpectedly high incidence of individuals with acylcarnitine patterns indicative of MCADD. Thus, screening programs and health professionals needed to establish diagnostic strategies on who should be regarded as confirmed MCADD cases. […] To date, all individuals with MCADD detected by neonatal screening are advised to avoid prolonged fasting and to follow disease management plans in case of intercurrent illness, irrespective of the underlying genotype or biochemical phenotype. […] The major clinical challenge in future MCADD screening will be to establish a risk stratification to avoid this burden for individuals who might need less treatment, or no treatment at all.

• #54 Functional Effects of Different Medium-Chain Acyl-CoA Dehydrogenase Genotypes and Identification of Asymptomatic Variants | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0045110

  Here we analyzed the genetic basis for the increase in octanoyl-carnitine in 65 individuals analyzed by newborn screening. […] Currently, ACADM gene analysis is the most important tool for confirmation diagnosis in MCAD deficiency. […] Our results, however, indicate that certain ACADM mutations do not categorically cause symptomatic MCAD deficiency. […] Our data further demonstrate that the octanoyl-carnitine concentration measured on newborn screening is not significant. […] The lack of correlation between the octanoyl-carnitine concentration on screening and genotype or residual activity in our cohort was obvious and is perfectly in line with previous reports.

• #55 Functional Effects of Different Medium-Chain Acyl-CoA Dehydrogenase Genotypes and Identification of Asymptomatic Variants | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0045110

  Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (OMIM 201450) is the most common inherited disorder of fatty acid metabolism presenting with hypoglycaemia, hepatopathy and Reye-like symptoms during catabolism. […] MCAD deficiency (OMIM 201450), initially identified in 1982, is the most common autosomal recessive disorder of the mitochondrial -oxidation with a regional incidence of 19,000 to 110,000 in Northern Europe and has been part of many newborn screening programs for the past ten years. […] Newborns with elevated octanoyl-carnitine levels in the newborn screen go generally for genetic tests and additionally enzymatic activity measurements. […] As in other metabolic enzyme deficiencies with implementation of newborn screening many asymptomatic patients are reported. […] The distinction between patients at risk of symptomatic disease and individuals who may never develop symptomatic disease in the long term is very important.

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