Materiały źródłowe

• #1 Diagnosis and management of glutaric aciduria type I – revised recommendations

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3109243/

  Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. It has an estimated prevalence of 1 in 100,000 newborns. More than 500 patients have been reported worldwide. Four genetic isolates with a high carrier frequency and over-representation of this disease have been identified. Untreated, approximately 90% of patients will develop neurological disease during a finite period of brain development (age 3-36 months) following an acute encephalopathic crisis. The characteristic neurological sequela of these crises is acute bilateral striatal injury and, subsequently, a complex movement disorder. Glutaric aciduria type I is included in the panel of diseases that are identified by expanded newborn screening in some countries. It has been shown that in the majority of neonatally diagnosed patients striatal injury can be prevented by combined metabolic treatment. Significant differences still exist in the approaches used to diagnose and manage affected patients, and there is a wide variation in the outcome, particularly in patients diagnosed presymptomatically. The aim of newborn and high-risk screening is to reduce the incidence of neurological disease. The overall prevalence of GA-I is approximately 1 in 100,000 newborns but varies considerably in different countries. High-risk screening in the Amish and the Irish travellers was first performed by organic acid analysis but detection of C5DC in DBS is now used.

• #2 Glutaric aciduria type I – Genomics Education Programme

  http://www.genomicseducation.hee.nhs.uk/documents/glutaric-aciduria-type-i/

  Glutaric aciduria type I (GA-I) is an autosomal recessive condition, caused by deficiency of glutaryl-CoA dehydrogenase, an enzyme involved in the catabolic pathway of lysine, hydroxylysine and tryptophan. […] GA-I has an estimated worldwide prevalence of 1 in 100,000 births, but is more frequent among certain ethnic groups (for example, the Old Order Amish community of Pennsylvania and Irish travellers). […] Screening for GA-I is part of the NHS newborn blood spot screening (NBS) programme in England. […] C5DC acylcarnitine in dried blood spots is used as the initial diagnostic metabolite in NBS. However, this does not reliably detect low excreters that may only exhibit slightly increased C5DC levels.

• #3 Application | Glutaric Aciduria Type 1 | Comidamed

  https://www.comidamed.com/en/applications-glutaric-aciduria

  Glutaric Aciduria type I (GA1) is a rare organic acid disorder with estimated overall prevalence of 1 in 100,000 newborns. […] GA1 is now regarded as a treatable metabolic disorder and is included in the disease panel of expanded newborn screening in some countries. […] In the majority of patients diagnosed in the neonatal period, brain damage can be prevented by metabolic treatment.

• #4 Glutaric Acidemia Type 1 – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK546575/

  The phenotypic spectrum of untreated glutaric acidemia type 1 (GA-1) ranges from the more common form (infantile-onset disease) to the less common form (later-onset disease after age 6 years). […] In the era of newborn screening (NBS), the prompt initiation of treatment of asymptomatic infants detected by NBS means that most individuals who would have developed manifestations of either infantile-onset or later-onset GA-1 remain asymptomatic. […] Because the early initiation of treatment dramatically improved the outcome for persons with GA-1, an international guideline group has recommended NBS. […] Regular evaluations by a metabolic specialist and metabolic dietician are appropriate. […] Testing of all at-risk sibs of any age is warranted to allow for early diagnosis and treatment. […] Prevalence estimates for GA-1 vary between 1:30,000 and 1:100,000-110,000. […] Well over 500 individuals with GA-1 have been reported to date.

• #5 Glutaric aciduria type 1 – Wikipedia

  https://en.wikipedia.org/wiki/Glutaric_aciduria_type_1

  GA1 occurs in approximately 1 of every 30,000 to 40,000 births. […] As a result of founder effect, it is much more common in the Amish community and in the Ojibway population of Canada, where up to 1 in 300 newborns may be affected. […] GA1 is considered a treatable disease. […] Screening of those known to be at high risk, neonatal population screening and a diagnosis of macrocephaly are the ways to identify bearers of the GCDH mutation who are not frankly symptomatic. […] Macrocephaly remains the main sign of GA1 for those who have no relatives with GA1 and have not been included in a population screening program.

• #6 Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01964-5

  Glutaric acidemia type 1 (GA1) is a treatable disorder affecting cerebral organic acid metabolism caused by a defective glutaryl-CoA dehydrogenase (GCDH) gene. GA1 diagnosis reports following newborn screening (NBS) are scarce in the Chinese population. […] The incidence of GA1 in the Quanzhou region was estimated at 1 in 47,044 newborns. […] Neonatal GA1 patients with increased C5DC levels can be identified through NBS. Maternal GA1 patients can also be detected using NBS due to the low C0 levels in their infants. […] The incidence of GA1 in the selected southern Chinese population was approximately 1 in 47,044 births, similar to other studied populations. […] All 13 GA1 patients in this study were identified through NBS. […] Few neonatal GA1 patients may have atypical acylcarnitine profiles that are easy to miss with NBS. Thus, multigene panel testing should be performed in newborns with low C0 levels.

• #7 Glutaric Aciduria Type 1 in Poland Detected Through Newborn Screening – Incidence, Initial Management and Outcome – SSIEM 2023

  https://program.eventact.com/Agenda/Lecture/265866?code=5813762

  GA1 incidence in Poland is 1:139000. […] The calculated GA1 incidence in Poland is relatively lower than reported elsewhere. […] Prompt initial management (including BF) and regular monitoring of intake of energy, natural and equivalent protein and lysine result in favourable outcomes.

• #8 Glutaric aciduria type 1 (GA1)

  https://www2.hse.ie/conditions/heel-prick-screening/conditions/glutaric-aciduria/

  Around 1 in every 54,000 babies born in Ireland has GA1. […] Babies with GA1 benefit from early diagnosis and treatment. […] If GA1 is not detected and treated early, it can be life threatening.

• #9 Simplified Approach to Glutaric Acidurias: A Mini-Review

  https://www.rarediseasesjournal.com/articles/simplified-approach-to-glutaric-acidurias-a-minireview.html

  Glutaric aciduria type I (GA-I) is an autosomal recessive organic aciduria caused by glutaryl-CoA dehydrogenase (GCDH) deficiency with an estimated overall prevalence of 1 in 100,000 newborns. […] Since the initial description of two index patients in 1975 and 2011, only 500 cases have been reported worldwide. […] The early diagnosis of GA-I is essential, since the metabolic symptoms can be usually prevented by carnitine supplementation and a diet that is low in lysine and tryptophan to reduce glutaric acid production, and also may include supplementation with L-carnitine, riboflavin. […] GA-I is a good candidate for NBS, and the aim of NBS in GA-I cases is to reduce the risk of irreversible neurological disease following the striatal injury. […] The prevalence is unknown.

• #10

  https://link.springer.com/article/10.1007/s10545-011-9289-5

  Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. […] Glutaric aciduria type I is included in the panel of diseases that are identified by expanded newborn screening in some countries. […] Since the description of two index patients in 1975 (Goodman et al. 1975) more than 500 patients have been reported worldwide. […] Untreated, approximately 90% of patients will develop neurological disease during a finite period of brain development (age 3-36 months) following an acute encephalopathic crisis often precipitated by gastroenteritis, intercurrent febrile illness, immunization, or surgical intervention. […] Morbidity and mortality is high in patients who have had a crisis. […] Significant differences still exist in the approaches used to diagnose and manage affected patients, and there is a wide variation in the outcome, particularly in patients diagnosed presymptomatically.

• #11 Glutaric acidemia type I: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i/

  Glutaric acidemia type I occurs in approximately 1 in 100,000 individuals. It is much more common in the Amish community and in the Ojibwa population of Canada, where up to 1 in 300 newborns may be affected. […] Some babies with glutaric acidemia type I are born with unusually large heads (macrocephaly). Affected individuals may have difficulty moving and may experience spasms, jerking, rigidity, or decreased muscle tone. […] Strict dietary control may help limit progression of the neurological damage. Stress caused by infection, fever or other demands on the body may lead to worsening of the signs and symptoms, with only partial recovery.

• #12 Newborn Screening for Glutaric Aciduria Type I: Benefits and limitations

  https://www.mdpi.com/2409-515X/1/2/57

  GA-I is a rare inherited disorder of L-lysine, L-hydroxylysine and L-tryptophan metabolism first described in 1975, with an overall estimated prevalence of 1 in 100,000 newborns. High-risk populations with a prevalence of up to 1 in 300 newborns have been identified. […] In the late 1990s, pilot studies on newborn screening for GA-I were initiated in a few countries (Australia, Germany, some US states) and in known high-risk populations (USA: Amish, Republic or Ireland: Irish Travellers). […] With more than 15 years experience in newborn screening for GA-I, it has become evident that this diagnostic intervention is a powerful tool to prevent the manifestation of movement disorders in the majority of early diagnosed patients. […] However, despite increasing evidence, not more than one third of European Union Member States has implemented GA-I in its national disease panel.

• #13

  https://omim.org/entry/231670

  Glutaric acidemia type I occurs in about 1 in 100,000 infants worldwide. […] Prevalent in Old Order Amish of Lancaster County, Pennsylvania and Saulteaux/Ojibway Indians of Canada. […] The incidence of basal ganglia injury was 85% in non-Amish patients and 94% in retrospectively identified Amish children. […] In 14 children with glutaric aciduria I from the Old Order Amish community in Lancaster County, Pennsylvania, Morton et al. (1991) noted a remarkably variable clinical picture ranging from acute infantile encephalopathy and sudden death to static extrapyramidal cerebral palsy. […] The authors estimated a 10% carrier frequency for this disorder among the Lancaster County Old Order Amish.

• #14

  https://link.springer.com/article/10.1007/s10545-011-9289-5

  GA-I has been widely considered a disorder for which newborn screening should be offered. […] The aim of newborn and high-risk screening is to reduce the incidence of neurological disease. […] The overall prevalence of GA-I is approximately 1 in 100,000 newborns but varies considerably in different countries. […] High-risk screening in the Amish and the Irish travellers was first performed by organic acid analysis but detection of C5DC in DBS is now used. […] A positive MS/MS screening result should be confirmed by one or more alternative techniques. […] The only effective way to identify patients with a low a priori risk is via newborn screening. […] The aim of regular therapy monitoring is to assess the efficacy of treatment and to identify complications or side effects.

• #15 GA-1 (glutaric acidemia type-1) – newbornscreening.info

  https://www.newbornscreening.info/ga-1-glutaric-acidemia-type-1/

  How many people have GA-1? About one in every 30,000 100,000 babies in the United States is born with GA-1. […] Does GA-1 happen more often in a certain ethnic group? GA-1 occurs in people from all parts of the world. It is more common in people of Amish background in the United States, the Ojibway Indian population in Canada, and people of Swedish ancestry. […] GA-1 is sometimes also called: Glutaric aciduria type 1.

• #16

  https://www.omim.org/entry/231670

  Glutaric acidemia type I occurs in about 1 in 100,000 infants worldwide. […] Prevalent in Old Order Amish of Lancaster County, Pennsylvania and Saulteaux/Ojibway Indians of Canada. […] In 14 children with glutaric aciduria I from the Old Order Amish community in Lancaster County, Pennsylvania, Morton et al. (1991) noted a remarkably variable clinical picture ranging from acute infantile encephalopathy and sudden death to static extrapyramidal cerebral palsy. […] The authors estimated a 10% carrier frequency for this disorder among the Lancaster County Old Order Amish.

• #17 Perioperative Management of a Patient With Glutaric Aciduria | Hakim | Journal of Medical Cases

  https://www.journalmc.org/index.php/JMC/article/view/2096/1539

  Glutaric aciduria type-1 (GA-1) is an uncommon, severe autosomal recessive metabolic disorder due to the deficiency of the enzyme, glutaryl-CoA dehydrogenase (GCDH) within the mitochondria. The estimated prevalence varies from 1 in 30,000 newborns in one Scandinavian study to 1 in 30,000 – 100,000 newborns in other studies. The prevalence may be much higher in isolated populations in the Middle East countries due to higher rates of consanguinity. […] Routine newborn screening has allowed early diagnosis with the institution of dietary restriction, carnitine and riboflavin supplementation, and treatment of acute encephalopathic crisis, thereby allowing for more normal development. […] Without routine newborn screening, early diagnosis is difficult as there are no pathognomonic signs or symptoms. Without clinical treatment including dietary therapy, the majority of patients manifest clinical signs and symptoms by 6 – 12 months of age including psychomotor delay, dystonia, and seizures.

• #18 Glutaric aciduria type 1 | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/glutaric-aciduria-type-1?embed_domain=hackmd.io%25252F%252540yIPUAFeCSL2JsU8smR5nJQ%25252Fbnjhjgjghjghjgh&lang=us

  Glutaric aciduria type 1 is rare organic aciduria, with an estimated prevalence of 1 in 100,000 newborns. It is inherited in an autosomal recessive manner, and hence consanguineous marriages are a risk factor. […] Early post-natal diagnosis should be sought as an early treatment prior to metabolic decompensation has the best chance of preventing neurological deterioration. For this reason, all siblings of an affected child and all future pregnancies should be screened for the disease.

• #19 A review of patients with glutaric aciduria type 1 at Inkosi Albert Luthuli Central Hospital, Durban, South Africa

  http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742017000300017

  Glutaric aciduria type 1 (GA1) is an organic acidaemia. The overall global prevalence of GA1 is 1/100 000. However, the prevalence of the A293T mutation in South African (SA) patients of black indigenous ancestry is 1/100 000 and has been documented as 1/5 184. The estimated prevalence of GA1 is 1/100 000 in newborns. Certain populations, such as the Old Order Amish of Pennsylvania, USA, and the Oji-Cree Island Lake First Nation communities of Canada, are known to have a higher disease burden. A higher carrier rate of the A293T mutation has been previously described in patients of black indigenous ancestry in the SA population. There is no newborn screening programme for GA1 in SA. Therefore, diagnosis in our patients was after the newborn period when the patients were already symptomatic. Early presymptomatic diagnosis and focused treatment of GA1 patients lead to a better neurological outcome. GA1 has a high prevalence in SA. Screening for GA1 is mandatory in patients with early-onset macrocephaly and suggestive neuroimaging features of GA1, neuroregression and dystonia after an acute encephalopathic illness, unexplained subdural haemorrhage, and a family history of GA1. GA1 is an important, treatable neurometabolic disorder with a high prevalence (1.7/1 000) in the SA population. This study highlights the urgent need for a newborn screening programme to be implemented in SA.

• #20 Newborn Screening for Glutaric Aciduria Type I: Benefits and limitations

  https://www.mdpi.com/2409-515X/1/2/57

  More than 15 years ago glutaric aciduria type I has been included in newborn screening programmes and pilot studies evaluating the potential benefit of early diagnosis and start of metabolic treatment for patients with this disease have been initiated. […] At that time many important questions on epidemiology, diagnostic quality, natural history, treatment, and cost effectiveness were not sufficiently answered. In particular, it was rather unknown whether early treatment improves the outcome. After implementation of glutaric aciduria type I in an increasing number of countries, and with careful evaluation of disease course and impact of early treatment, there is now solid evidence that affected individuals do have substantial benefit and that newborn screening for this disease is a cost-effective diagnostic intervention.

• #21 Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-8-167

  Glutaric aciduria type I (GA-I) is a rare genetic disorder with an estimated prevalence of approximately 1:110,000 in Germany and 1:100,000 worldwide. […] Newborn screening for GA-I can be efficiently based on the identification of elevated glutarylcarnitine (C5DC) concentrations in dried blood spots by tandem mass spectrometry (MS/MS). […] Considering current national screening panels, GA-I has been recommended as 1 of 29 core panel diseases for newborn screening in the US and was incorporated into nationwide newborn screening in Germany in 2005. […] A European report published in 2012 indicated that 10 European countries had included GA-I into their newborn screening panel, while 27 countries did not screen for GA-I. […] Several previous studies have analysed the cost effectiveness of introducing expanded MS/MS newborn screening programmes for different selections of diseases, including screening for GA-I.

• #22 The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study | Scientific Reports

  https://www.nature.com/articles/s41598-021-98809-9

  The estimated prevalence in Germany is 1:124.9301. […] Implementation of GA1 into national newborn screening (NBS) programs facilitating early diagnosis as well as development and repetitive revision of evidence-based guideline recommendations have dramatically improved neurologic long-term outcome worldwide resulting in more than 90% asymptomatic individuals with GA1 without MD if treated in full accordance with the recommendations. […] According to the German Society of Newborn Screening, the study cohort comprised 97.2% (69 of 71) of individuals identified by the German NBS program between 2004 and 2017. […] Overall sensitivity of NBS during the study period was 94.2%, but differed between HE (n=78, 100%) and LE patients (n=18, 75%; n=2 patients with unknown biochemical subtype). […] In the NBS group, results of cognitive tests were available for 72 patients.

• #23 Glutaric acidemia type I | Newborn Screening

  https://newbornscreening.hrsa.gov/conditions/glutaric-acidemia-type-i

  It is estimated that 1 in 100,000 babies are born with this condition each year in the United States. […] Newborn screening for glutaric acidemia type I is done using a small amount of blood collected from your baby’s heel. […] False-positive newborn screening results for this condition are rare. […] Glutaric acidemia type I is a genetic condition. Babies inherit it from their biological (birth) parents. […] Glutaric acidemia type I is an autosomal recessive condition. Babies inherit the condition when each parent passes down a nonworking GCDH gene to their baby. Only babies with two nonworking GCDH genes one from the mom and one from the dad have this condition. […] Genetic counselors and medical geneticists can help families learn about this condition and the chance of having children with it.

• #24 Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-8-167

  Our findings indicate that the morbidity resulting from GA-I can be considerably reduced by early diagnosis and treatment. […] Moreover, the long-term costs of screening for GA-I were shown to be lower than excluding GA-I from a MS/MS screening panel. […] To extend a pre-existing MS/MS screening by GA-I is a cost saving health intervention under conditions comparable to the German health system. […] The inclusion of GA-I into newborn screening programmes merits serious consideration by health policy makers.

• #25 Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis | Genetics in Medicine

  https://www.nature.com/articles/s41436-020-00971-4

  In GA1, NBS aims at improving the neurologic outcome by preventing irreversible MD and untimely death of symptomatic individuals. […] This meta-analysis unequivocally confirms that patients identified by NBS show a superior neurologic outcome with a higher rate of normal motor development and a lower rate of acute or insidious onset of MD compared with patients identified by TMS. […] Quality of therapy becomes the major predictor of neurological outcome in a screened population. […] It is important to note that deviations from recommended treatment had different negative effects on the neurological outcome, with deviations from MT increasing the risk of insidious onset MD, and deviations from ET being highly frequent in individuals with acute onset MD.

• #26 Simplified Approach to Glutaric Acidurias: A Mini-Review

  https://www.rarediseasesjournal.com/articles/simplified-approach-to-glutaric-acidurias-a-minireview.html

  Glutaric aciduria type I (GA-I) is an autosomal recessive organic aciduria caused by glutaryl-CoA dehydrogenase (GCDH) deficiency with an estimated overall prevalence of 1 in 100,000 newborns. […] Since the initial description of two index patients in 1975 and 2011, only 500 cases have been reported worldwide. […] The early diagnosis of GA-I is essential, since the metabolic symptoms can be usually prevented by carnitine supplementation and a diet that is low in lysine and tryptophan to reduce glutaric acid production, and also may include supplementation with L-carnitine, riboflavin. […] GA-I is a good candidate for NBS, and the aim of NBS in GA-I cases is to reduce the risk of irreversible neurological disease following the striatal injury. […] The prevalence is unknown.

• #27 Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis | Genetics in Medicine

  https://www.nature.com/articles/s41436-020-00971-4

  Glutaric aciduria type 1 (GA1), a rare inherited neurometabolic disorder, results in a complex movement disorder (MD) with predominant dystonia if untreated. […] Estimated prevalence ranges from 1:125,000 to 1:250 newborns in genetic high-risk populations. […] This meta-analysis demonstrates that NBS programs for GA1 have an overall positive effect on the neurological outcome of affected individuals but their success critically depends on the quality of therapy. […] Most newborn screening (NBS) pilot studies have demonstrated a positive effect of early identification by NBS and neonatal start of treatment on neurologic outcome at variable extent. […] In contrast, postsymptomatic treatment is not thought to improve the neurological outcome since striatal damage cannot be reversed. […] This meta-analysis of outcomes of individuals with GA1 identified either by NBS or TMS is the most comprehensive synopsis of published data for this rare neurometabolic disorder so far. The main findings are that (1) NBS has an overall beneficial effect on the neurologic outcome of affected individuals, improving motor development and decreasing the frequency of movement disorders; and (2) quality of therapy becomes the major outcome predictor in a screened GA1 population.

• #28 Diagnosis and management of glutaric aciduria type I – revised recommendations

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3109243/

  Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. It has an estimated prevalence of 1 in 100,000 newborns. More than 500 patients have been reported worldwide. Four genetic isolates with a high carrier frequency and over-representation of this disease have been identified. Untreated, approximately 90% of patients will develop neurological disease during a finite period of brain development (age 3-36 months) following an acute encephalopathic crisis. The characteristic neurological sequela of these crises is acute bilateral striatal injury and, subsequently, a complex movement disorder. Glutaric aciduria type I is included in the panel of diseases that are identified by expanded newborn screening in some countries. It has been shown that in the majority of neonatally diagnosed patients striatal injury can be prevented by combined metabolic treatment. Significant differences still exist in the approaches used to diagnose and manage affected patients, and there is a wide variation in the outcome, particularly in patients diagnosed presymptomatically. The aim of newborn and high-risk screening is to reduce the incidence of neurological disease. The overall prevalence of GA-I is approximately 1 in 100,000 newborns but varies considerably in different countries. High-risk screening in the Amish and the Irish travellers was first performed by organic acid analysis but detection of C5DC in DBS is now used.

• #29 Newborn Screening for Glutaric Aciduria Type I: Benefits and limitations

  https://www.mdpi.com/2409-515X/1/2/57

  The major limitation in evaluating the clinical benefit of newborn screening for GA-I patients is the current knowledge on the long-term disease course. […] More than 15 years after the start of first newborn screening pilot projects for GA-I, there is now convincing evidence from different countries and health systems that combination of early diagnosis via newborn screening and an early start of metabolic treatment has dramatically improved the neurological outcome and survival of patients with this disease.

• #30 Glutaric aciduria type I (GA1) | European registry and network for Intoxication type Metabolic Diseases – E-IMD

  https://www.e-imd.org/diseases/organic-acidurias-oads/glutaric-aciduria-type-i-ga1

  Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria (estimated prevalence is 1 in 100-120,000 newborns). […] Glutaric aciduria type I is included in the disease panel of expanded newborn screening in some countries. […] In the majority of patients diagnosed in the neonatal period, striatal injury can be prevented by metabolic treatment.

• #31 Glutaric Aciduria Type 1 – Metabolic Support UKAccessibility ToolsIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://metabolicsupportuk.org/condition/glutaric-aciduria-type-1/

  Around 1 in 100,000 children worldwide are thought to be affected by GA1. […] GA1 is diagnosed by newborn screening. High levels of glutaric acid are found in the blood. […] GA 1 is monitored using: Frequent blood tests to check amino acid and nutrient levels.

• #32 SciELO Brazil – Clinical and Nutritional Evolution of 24 Patients with Glutaric Aciduria Type 1 in Follow-up at a Center Specialized in Inborn Errors of Metabolism in Chile Clinical and Nutritional Evolution of 24 Patients with Glutaric Aciduria Type 1 i

  https://www.scielo.br/j/jiems/a/KrsSb6gkkbJNwrR6thgbsxx/

  The clinical presentation of GA-1 is varied and the absence of AEC does not guarantee neurological indemnity. The presentation form of insidious start was prevalent in the analyzed population and the association of symptoms: Macrocephaly, developmental delay and/or regression, abnormal movements should increase diagnostic suspicion of AG-1. […] To achieve a favorable nutritional and neurological evolution in the patient, active follow-up with continuous education of the family is of great importance in order to achieve adherence to nutritional treatment. Therefore, this should be done in specialized centers for inborn errors of metabolism to improve the prognosis of this condition.

• #33 A Case of Mistaken Identity: Glutaric Aciduria Type I Masquerading as Postmeningitic Hydrocephalus – Journal of Clinical Imaging Science

  https://clinicalimagingscience.org/a-case-of-mistaken-identity-glutaric-aciduria-type-i-masquerading-as-postmeningitic-hydrocephalus/

  Glutaric aciduria type 1 (GAT 1) is an autosomal recessive inherited metabolic disease caused by the deficiency of mitochondrial enzyme, glutaryl-coenzyme. It is a rare but important etiology of macrocephaly, with an estimated incidence of 1 in 100,000 births. […] The imaging features described for GAT 1 are a characteristic combination of macrocrania, diffuse cerebral atrophy, widened or open Sylvian fissures due to lack of operculation (with temporal lobe hypoplasia), diffuse hemispheric white-matter abnormalities, and bilaterally symmetric basal ganglia lesions. These have been described as the signature imaging signs for GAT 1. […] The goals of management of GAT 1 are to primarily reduce cellular glutaric acid levels and secondarily institute prompt treatment for intercurrent illnesses.

• #34 Glutaric Acidemia Type 1: An Inherited Neurometabolic Disorder of Intoxication | SpringerLink

  https://link.springer.com/10.1007/978-3-031-15080-7_202

  Glutaric acidemia type 1 (GA 1) is an inherited neurometabolic disease of intoxication caused by absent (high excretors) or deficient (low excretors) activity of glutaryl-CoA dehydrogenase, which is involved in lysine, hydroxylysine, and tryptophan degradation. […] GA 1 is a treatable disease when diagnosed early by newborn screening, but in places without this facility, patients are identified after symptom onset, presenting irreversible basal ganglia lesions, motor disabilities, and high mortality. […] Therefore, further investigation on the mechanisms underlying brain and kidney damage is needed to enable the development of novel therapeutic strategies. […] The major objective is to alert neurologists and neuroscientists to this disease.

• #35 A Case of Mistaken Identity: Glutaric Aciduria Type I Masquerading as Postmeningitic Hydrocephalus – Journal of Clinical Imaging Science

  https://clinicalimagingscience.org/a-case-of-mistaken-identity-glutaric-aciduria-type-i-masquerading-as-postmeningitic-hydrocephalus/

  Diligent evaluation with serial neuroimaging studies is an important key not only to clinch the diagnosis, but also to document the progressive nature of GAT 1, as was seen in our patient. […] However, very few countries include the detection of GAT 1 in their routine neonatal screening programs for inborn errors of metabolism. […] The radiologist therefore has a critical role in the early imaging diagnosis of this condition as early institution of therapy can halt the progression of the disease. Any diagnostic delay, whether clinical or imaging, leads to progressive and irreversible neurological damage. […] In underdeveloped countries, the clinical bias toward infectious causes, especially tuberculosis, leads to erroneous interpretation for the etiology of subdural collections and hydrocephalus. Therefore, an astute radiologist plays a vital role in arriving at an early diagnosis of GAT 1, for timely institution of therapy, which can delay the progressive neurological deterioration.

• #36 Evaluation of the first 5 years of a glutaric aciduria type I neonatal screening programme in Asturias | Anales de Pediatría

  https://analesdepediatria.org/en-evaluation-first-5-years-glutaric-avance-S2341287924001376

  Neonatal screening of glutaric aciduria type 1 (GA-1) has brought radical changes in the course and outcomes of this disease. This study analyses the outcomes of the first 5 years (2015-2019) of the AGA1 neonatal screening programme in our autonomous community. […] Screening allowed early diagnosis of two cases of GA-1 in the first 5 years since its introduction in our autonomous community. […] The incidence of GA-1 was 1 case per 15,060 births per year. […] In these first 5 years of screening, 2 cases of GA-1 were detected and confirmed. […] The clinical outcomes of patients with GA-1 have changed drastically since the disorder started to be diagnosed through the NSP. […] The early diagnosis of GA-1 through newborn screening with the C5-DC test is key to modify the natural history of the disease and prevent neurologic damage in patients. The NSP has allowed the early diagnosis of 2 cases of GA-1 in the first 5 years since its introduction, with no evidence to date of any false negatives.

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