Materiały źródłowe

• #1 Inherited metabolic rare disease – PubMed

  https://pubmed.ncbi.nlm.nih.gov/20824458/

  Inherited metabolic disorders (IMD) represent a vast, diverse and heterogeneous collection of around 700 genetic diseases. […] They are a significant cause of morbidity and mortality, especially in childhood. […] Difficulties in ascertaining cases and the increasing number of new disorders have hampered efforts to accumulate exhaustive epidemiological data. […] Nonetheless, recent studies quote the cumulative incidence of IMDs at around 1 in 800 live births. […] To understand the epidemiology of IMD we will consider in this chapter two types of epidemiological approaches. The first type, or the Analytical approaches, includes the function of genetic factors in the natural history and clinical variability of the disease, as well as the role of epigenetic, stochastic and environmental factors.

• #2 Metabolomic Diagnostic in Inherited Metabolic Disorders: Historical Progress and Future Perspectives | IntechOpen

  https://www.intechopen.com/chapters/1198080

  Inherited metabolic disorders (IMD) encompass a diverse range of monogenic disorders disrupting metabolic pathways, leading to significant morbidity and mortality. […] The latest international classification of IMD includes 1450 different disorders. The individual prevalence of each IMD is between 1 and 10 per 100,000 live births, which is why they are considered rare diseases. However, collectively, they have an overall prevalence of approximately 1 in 2000 live births, representing a significant public health issue, being a diverse array of disorders that encompass a significant amount of morbidity and mortality worldwide. […] While some IMD present characteristic symptoms that allow for a high index of suspicion, many others present common and nonspecific symptoms that complicate their identification and can lead to significant diagnostic delays.

• #2 Inborn errors of metabolism: Epidemiology, pathogenesis, and clinical features – UpToDate

  https://www.uptodate.com/contents/inborn-errors-of-metabolism-epidemiology-pathogenesis-and-clinical-features

  Inborn errors of metabolism: Epidemiology, pathogenesis, and clinical features […] EPIDEMIOLOGY […] Individual IEM are rare disorders, most having an incidence of less than 1 per 100,000 births. However, when considered collectively, the incidence may approach 1 in 800 to 1 in 2500 births. In one review of cases of IEM diagnosed in British Columbia (a predominantly White population) between 1969 and 1996, estimates of incidence of various classes of disorders were as follows: […] The epidemiology, pathogenesis, and most common chronic clinical and laboratory manifestations of IEM are discussed below.

• #2 Inherited metabolic rare disease – PubMed

  https://pubmed.ncbi.nlm.nih.gov/20824458/

  The second type, or the Descriptive approaches, comprises methods of case ascertainment through the diagnosis of symptomatic patients and population screening, mainly newborn and carrier screening, as well as measures of disease frequency and resources for disease control and prevention (primary, secondary and tertiary).

• #3 Epidemiology of inherited metabolic disorders in newborn screening: insights from three years of experience in Southern Iran | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-025-03602-w

  Newborn screening is essential for the early detection of congenital genetic and metabolic disorders, enabling timely intervention to prevent morbidity, mortality, and disabilities associated with inherited metabolic disorders (IMDs). […] This study aimed to assess the epidemiology of these metabolic diseases. […] Among the screened neonates, 139 patients of IMDs were identified, yielding an estimated birth prevalence of 1:1000. […] The most prevalent IMDs were phenylalanine metabolism disorders, short-chain acyl-CoA dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, and methylmalonic acidemia. […] Notably, the prevalence of IMDs in Fars Province is significantly higher than average global statistics. […] Our data highlight the efficiency and robustness of neonatal screening for IMD in Iran.

• #4 Inherited Metabolic Disorders: Types, Signs, Causes & Treatment

  https://www.webmd.com/a-to-z-guides/inherited-metabolic-disorder-types-and-treatments

  Inherited metabolic disorders are genetic conditions that result in metabolism problems. Most people with inherited metabolic disorders have a defective gene that results in lack of an enzyme. According to the latest count, 1,564 of these disorders have been identified. […] Christina Tise, MD, PhD, an assistant professor of medical genetics at Stanford Medicine in Stanford, CA, estimates that about 1 in 100 babies are born with some type of inherited metabolic disorder. But the exact number remains unknown, she adds. […] It is hard to really know the prevalence of these conditions because newborn screening only screens for a small handful of the conditions we know about, Tise says. […] Each inherited metabolic disorder is very rare in the general population. But considered together, inherited metabolic disorders may affect about 1 in 1,000 to 2,500 newborns. In certain ethnic populations, such as in Ashkenazi Jews with central and eastern European ancestry, the rate of inherited metabolic disorders is higher.

• #5 Inborn errors of metabolism – Wikipedia

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

  In a study in British Columbia, the overall incidence of the inborn errors of metabolism were estimated to be 40 per 100,000 live births or 1 in 2,500 births, overall representing more than approximately 15% of single gene disorders in the population. […] While a Mexican study established an overall incidence of 3.4:1,000 live newborns and a carrier detection of 6.8:1,000 NBS.

• #6 Inherited Metabolic Disorders: Overview and Resources

  https://metab.ern-net.eu/inherited-metabolic-disorders/

  In the European Union, life-threatening or chronically debilitating conditions with a low prevalence in the population, affecting fewer than 5 in 10000 people, are considered to be rare (Decision No 1295/1999/EC) […] An estimated 36 million individuals currently live with a rare disease in the EU and around 80% of these conditions are thought to have a genetic origin. […] Inherited Metabolic Disorders (IMDs), in particular, represent a group of more than 1400 rare genetic pathologies, classified in 130 different biochemical groups, that impact both children and adults and are quite heterogeneous. […] Metabolic disorders are generally chronic and progressive and can involve multiple organs, thus early diagnosis and treatment are crucial to avoid further complications. […] Optimal care for patients with rare metabolic disorders can be achieved only through a joint effort.

• #7 Inherited Metabolic Disorders Market Detailed Study Analysis and Forecast by 2025 – BioSpace

  https://www.biospace.com/inherited-metabolic-disorders-market-detailed-study-analysis-and-forecast-by-2025

  Nowadays, genetic screening via mass spectrometry and DNA testing of all newborn children are done in nearly all of the developed countries and also some developing countries of the world, including India, China, and Brazil, albeit across a small percentage of the national population. […] The overall estimated global populations of IMD individuals lie in few millions. […] The inherited metabolic disorders lays primarily with the Caucasian and African American populations of world, especially in North America, Europe, Australia, and Africa, followed by the minority populations from South Asia and East Asia.

• #8 Inborn Errors of Metabolism in Iran: First Report from Iran Metabolic Registry

  https://brieflands.com/articles/ijp-130939.html

  Inborn errors of metabolism (IEMs) comprise over 1,000 disorders. Wide geographical and racial variations in the global birth prevalence and their inheritance patterns have been reported by epidemiological studies. […] The birth prevalence of all IEMs is estimated to be 50.9 in 100,000 live births globally. […] Information on the incidence/prevalence of the disorders is critical for developing a national policy for the management and care of patients. However, the exact incidence and prevalence of IEMs in Iran are unclear due to the lack of a unified national registry. […] This study represents the first report from the IEM registry. A comprehensive registry of IEMs for collecting patient data will help clinicians with more accurate diagnoses of the disorders, monitoring, and follow-up. Furthermore, by estimating the burden of IEMs, the healthcare system and government could accurately assess the medication and equipment needed. […] The Iranian Registry of IMDs as a national database could be an epidemiological value by reporting the prevalence/ incidence and national distribution of IMDs and an important tool for assessing and caring for patients.

• #9 China nationwide landscape of 16 types inherited metabolic disorders: a retrospective analysis on 372,255 clinical cases | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02834-y

  Inherited metabolic disorders (IMDs) usually occurs at young age and hence it severely threatening the health and life of young people. […] This study aimed to evaluate IMDs incidence and regional distributions in China at a national and province level to guide clinicians and policy makers. […] There were 4911 positive cases diagnosed, which was 1.32% of the total sample during the ten-year study period. […] Most diseases tended to occur at ages younger than 18 year-old. […] Different IMDs had different distribution patterns in Chinas provinces. […] Methylmalonic Acidemias and Hyperphenylalaninemia had an imbalanced distribution pattern in China and its positive rate was significantly higher in North China than South China. Conversely, the positive rate of CD was significantly higher in South China than North China.

• #10 China nationwide landscape of 16 types inherited metabolic disorders: a retrospective analysis on 372,255 clinical cases | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02834-y

  Results of this work, such as the differences in distribution pattern of different diseases in terms of age, region, etc. provide important insights and references for clinicians, researchers and healthcare policy makers. […] The policy makers could optimize the better health screening programs for covering children and infants in specific ages and regions based on our findings. […] Epidemiological data of the above studies indicate that IMDs seemed have a relatively low prevalence in general compared with other more commonly seen diseases. […] Despite such data from above studies, IMDs are by no means less important than other diseases. Instead, IMDs should be paid high attention to because they are closely associated with early neonatal death and abnormal growth and development. […] Therefore, the objective of the study is to evaluate IMDs incidence and regional distributions in China at a national and province level. […] This work revealed the latest IMDs information of both the provincial domestic situation and the nationwide situation in China, it will provide a reference for promoting policy implementation and resource allocation for IMDs.

• #11 24: Inherited metabolic disease | Basicmedical Key

  https://basicmedicalkey.com/24-inherited-metabolic-disease/

  If IMDs that present in adult life (e.g. familial hypercholesterolaemia, genetic haemochromatosis) are included, at least 1 in 100 individuals has one of these conditions. If disorders such as the haemoglobinopathies are included, the prevalence is greater still. […] Newborn screening is used to detect conditions that have a presymptomatic period during which treatment can dramatically improve outcome. In the UK, conditions screened for at this time include congenital hypothyroidism, PKU, MCADD, cystic fibrosis and sickle cell disorders. A pilot study is underway in the UK to examine an expanded neonatal screening programme including maple syrup urine disease, glutaric aciduria type 1, isovaleric acidaemia, LCHADD and pyridoxine unresponsive homocystinuria. This is modest compared to some countries, e.g. the USA where newborns are screened for over 30 conditions. However, for many of these conditions the natural history is not fully understood, treatments are only partially effective and infants may present and die prior to the screening result being available. The detection of infants who will never develop symptomatic disease remains a real concern. […] Screening is also used to detect IMDs in populations with higher frequencies of a particular condition, usually secondary to a founder effect, for example Tay-Sachs disease in the Ashkenazi Jewish population.

• #12

  https://link.springer.com/article/10.1007/s10545-014-9729-0

  Many newborn screening programmes now use tandem mass spectrometry in order to screen for a variety of diseases. […] Recently, a pilot screening programme was conducted in order to evaluate the health and economic consequences of screening for five additional inherited metabolic disorders in England. […] We identified a total of 99 studies that were able to provide information on the prevalence of one or more of the disorders. The vast majority of studies were of screening programmes with some reporting on clinically detected cases.

• #13 Inherited Metabolic Disorders: Types, Signs, Causes & Treatment

  https://www.webmd.com/a-to-z-guides/inherited-metabolic-disorder-types-and-treatments

  Improved testing technology has led many states to expand newborn screening for genetic metabolic disorders. […] If an inherited metabolic disorder is not detected at birth, it’s often not diagnosed until symptoms appear. […] But as Tise points out, these disorders are often thought of as affecting children, so they may not be on your doctors list of possible suspects if you dont show symptoms until adulthood. […] Inherited metabolic disorders are present at birth, and some are detected by routine screening. All 50 states screen newborns for phenylketonuria. Most states also test newborns for galactosemia. But no state tests babies for all known inherited metabolic disorders. […] There are new and promising therapies coming out in the realm of gene therapy, enzyme replacement therapy, and prenatal therapies in fetuses with a known diagnosis, Tise says.

• #14 Inherited metabolic disorders involving the eye: a clinico-biochemical perspective | Eye

  https://www.nature.com/articles/eye2009229

  It is absolutely essential that doctors diagnose IMDs early and whenever necessary, refer the patient to a tertiary care centre for better care, detailed laboratory workup, and management. […] Recognition of IMDs is important as it is quite common in incidence. […] Early diagnosis is important, as in most cases, dietary restriction and early therapy prevents onset of disability. […] The increasing application of new technologies, such as electrospray ionisation tandem mass spectrometry, to newborn screening in asymptomatic persons allows earlier identification of IMDs. […] Accurate diagnosis is important for medical management, determining prognosis and genetic counselling. […] Confirmed diagnosis based on laboratory investigations helps in early medical intervention. […] Through proper diagnosis and treatment, it is possible to prevent the natural history of the disease.

• #14 Inherited metabolic disorders involving the eye: a clinico-biochemical perspective | Eye

  https://www.nature.com/articles/eye2009229

  The diagnosis of inborn errors of metabolism is challenging for most physicians. […] Improvements in medical technology and greater knowledge of the human genome are resulting in significant changes in the diagnosis, classification, and treatment of inherited metabolic disorders (IMDs). […] The number of known IMDs is probably as large as the number of presenting symptoms that may indicate metabolic disturbances. […] In India, biochemical screening of 4400 cases of mental retardation revealed that 5.75% (256 cases) were due to various IMDs. […] IMDs are becoming increasingly recognised wherein early diagnosis and appropriate treatment interventions are mandatory to reduce the morbidity and mortality rates among the newborns. […] Early diagnosis is crucial for three reasons. […] The latest discoveries in the human genome project and advances in medical technology have resulted in significant alterations in the diagnosis, classification, and treatment of IMDs.

• #15 Inherited metabolic disorders in a cohort of Egyptian children | Egyptian Liver Journal | Full Text

  https://eglj.springeropen.com/articles/10.1186/s43066-022-00176-1

  Inborn errors of metabolism (IEMs) represent a special challenge in pediatric practice. […] This study included four thousand and eighty suspected IEMs patients. […] Three hundred and twenty (320/4080, 7.8%) patients were diagnosed with IEMs. […] IEMs are rare diseases when taken individually, but totally these disorders are relatively frequent in distinct populations. […] The cumulative incidence is about 1:800 in live births. […] Most IEMs are found in many families in Egypt causing high morbidity and mortality rates due to neurological damages which happen at a very young age. […] Despite the unquestionable clinical significance of newborn screening and its principal role in the community health care, it just offers a snapshot of an extremely minor subgroup of metabolic disorders by the screening markers in dried blood spot (DBS) cases via the use of tandem mass spectrometry (MS/MS); moreover, several IEMs are not detected by routine newborn screening protocols.

• #16

  https://link.springer.com/article/10.1007/BF01799972

  The use of a register for inherited metabolic diseases has many potential benefits, but it is particularly important to define clear objectives, to ensure that the design of the register should allow these objectives to be achieved and to take account of the many problems which may be encountered. […] The council of the SSIEM and its international advisers are concerned at the multiplication of registers involving inherited metabolic diseases. This journal therefore hopes to provide a series of reviews on registers in order to examine basic principles and to improve communications. After the early characterization of a defect in the scientific literature, it can be difficult to consolidate our knowledge and, if necessary, secure optimal care. This cautionary review of some of the basic principles will, we hope, be followed by coverage of other aspects and of details.

• #17 U-IMD Consortium | Unified Registry for Inherited Metabolic Disorders

  https://u-imd.org/u-imd-consortium/

  To date no overarching patient registry encompassing the majority of IMDs, independent from industry and built on the common data elements of the EU RD Platform exists. The Unified European Registry for Inherited Metabolic Diseases (U-IMD) being the first European registry that encompasses all 1400+ IMDs, aims at closing this gap.

• #17 U-IMD Consortium | Unified Registry for Inherited Metabolic Disorders

  https://u-imd.org/u-imd-consortium/

  More than 1400 inherited metabolic diseases (IMDs) have so far been identified; the numbers are rapidly increasing, since new analytical high through-put methods help to unravel the molecular and metabolic basis of so far unknown diseases. Each IMD is a rare condition with estimated individual prevalence ranging from 0.1 to 15 in 100,000 newborns but taken together patients affected by IMDs are numerous with at least one in 500 newborns. […] Since IMDs are rare, experience of single expert centres is extremely limited and the evidence base of current diagnostic and therapeutic approaches is low. This causes significant inequalities and inequities for patients with IMDs and, consequently, has a significant impact on their health outcome as well as on the socio-economics of European countries.

• #18 Inborn Errors of Metabolism: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/804757-overview

  The incidence of IEMs, collectively, is estimated to be 1 in 800 to 1 in 2500 live births, with wide variation across IEMs and populations. […] The prevalence of lysosomal storage disorders (approximately 60 diseases and growing) is significant when the group is considered as a whole, varying from 1 case in every 4000-13,000 births across different studies and projected to increase as data emerging from newborn screening programs is reported. […] The overall incidence and the frequency for individual diseases varies based on racial and ethnic composition of the population and on the extent of screening programs. […] The incidence within different racial and ethnic groups varies with predominance of certain IEMs within particular groups (eg, cystic fibrosis, 1 per 1600 people of European descent; sickle cell anemia, 1 per 365 people of Black or African descent, with greater than 90% of those having it being of African descent). […] The timing of presentation depends on significant accumulation of toxic metabolites or on the deficiency of substrate. […] The onset and severity may be exacerbated by environmental factors such as diet and intercurrent illness.

• #19

• #20 Inherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968–2023)

  https://www.mdpi.com/2227-9067/10/7/1205

  In recent years, in some places, lysosomal storage diseases like Krabbe, Pompe, Fabry, Gaucher, Niemann-Pick, and Mucopolysaccharidosis, types I and II, as well as X-linked adrenoleukodystrophy, a peroxisomal disease, were included in the newborn screening program. There is a notable rise in the prevalence of metabolic disorders, identified through advancements in the fields of biochemistry and genetics, and this also causes significant expansions in the scope of the newborn screening program. […] Evaluating the literature from a broad perspective regarding the trending topics over the years and the least mentioned topics that perhaps show the need to fill the lack of knowledge in this field is essential. […] Our study aims to conduct a bibliometric analysis of the existing body of published literature on inherited metabolic diseases to shed light on the latest status, current issues, and missing points in this field.

• #21 About Inherited Metabolic Diseases – Cardiff and Vale University Health Board

  https://cavuhb.nhs.wales/our-services/all-wales-adult-inherited-metabolic-disease-service/information-for-patients/about-inherited-metabolic-diseases/

  Inherited metabolic disorders are rare genetic conditions that interfere with metabolism. There are over 500 inherited metabolic disorders. […] It is estimated that there are around 20 000 children and adults living with an inherited metabolic disorder in the UK (Metabolic Support UK, 2022). […] An increasing number of paediatric patients with inherited metabolic disorders are reaching adulthood. In addition, many patients are diagnosed for the first time in adult life due to improved awareness of these disorders and the availability of advanced diagnostic techniques.

• #22 Inherited metabolic diseases: a guide to 100 conditions | Archives of Disease in Childhood

  https://adc.bmj.com/content/93/1/92.2

  Although individual inborn errors of metabolism are relatively rare conditions, as a group they represent a vast and diverse collection of diseases that are a significant cause of morbidity and mortality worldwide. […] Even though reports in the literature often quote a cumulative incidence varying between 1 in 1500 and 1 in 5000 live births, a recent retrospective study on an ethnically diverse population in the United Kingdom found this range to underestimate the real figure, and placed the prevalence.

• #23 Inherited Metabolic Diseases | Research, Epidemiology and Statistics,

  https://www.taylorfrancis.com/books/mono/10.1201/9781315382920/inherited-metabolic-diseases-steve-hannigan-steve-field

  Inherited Metabolic Diseases are common enough for health, social service and education professionals to encounter them periodically, but rare enough for them to be poorly understood. They severely affect up to 1 in 10,000 people, and lead to a wide range of special needs in care and education. […] This uniquely comprehensive source of information is a vital reference for hospital doctors including paediatricians, general practitioners, nurses and other health professionals, social service and education staff and managers, and the families and carers of children with the conditions.

• #24 Inherited Metabolic Diseases: Research, Epidemiology and Statistics, Research, Epidemiology and Statistics by Steve Hannigan, Steve Field | eBook | Barnes & Noble®

  https://www.barnesandnoble.com/w/inherited-metabolic-diseases-steve-hannigan/1137765811

  Inherited Metabolic Diseases are common enough for health, social service and education professionals to encounter them periodically, but rare enough for them to be poorly understood. They severely affect up to 1 in 10,000 people, and lead to a wide range of special needs in care and education. This guide provides specialist information on metabolic diseases for the non-specialist. In a concise, accessible and family-friendly format, each entry lists the names by which a condition is known, and explains the genetic causes of the disease, the physical effects, the patient’s symptoms, and available treatments. Key diseases from all ten major groups of metabolic disorders are described, and all entries have been reviewed by Specialist Advisers. The work has been coordinated by the charity Climb, Children Living with Inherited Metabolic Diseases. This uniquely comprehensive source of information is a vital reference for hospital doctors including paediatricians, general practitioners, nurses and other health professionals, social service and education staff and managers, and the families and carers of children with the conditions.

• #25 A Population-Based Genomic Study of Inherited Metabolic Disaeases Detected Through Newborn Screening

  https://www.annlabmed.org/journal/view.html?volume=36&number=6&spage=561

  A newborn screening (NBS) program has been utilized to detect asymptomatic newborns with inherited metabolic diseases (IMDs). […] We also evaluated the genetic epidemiologic characteristics of IMDs in a Korean population. […] The overall positive rate of IMDs was 20%. […] The incidence of IMDs was approximately 1 in 2,235 births. […] Through a population-based study in the NBS environment, we highlight the screening and epidemiological implications of NGS. […] The integrated screening model will effectively contribute to public health by enabling faster and more accurate IMD detection through NBS. […] This study suggested founder mutations as an explanation for recurrent IMD-causing mutations in the Korean population.

• #26 Epidemiology of inherited metabolic disorders in newborn screening: insights from three years of experience in Southern Iran | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-025-03602-w

  The prevalence of these diseases in Fars province, according to newborn screening (NBS), was 1 per 1000 live births. […] This prevalence indicates one of the higher rates reported worldwide. […] The high prevalence of IMDs in Fars province underscores the critical need for strengthening healthcare infrastructure to address the burden of these disorders. […] Expanding newborn screening for IMDs across Iran and the Middle East is vital, as the findings from Fars province reveal a significantly higher prevalence than global averages.

• #27 Inherited metabolic disorders in a cohort of Egyptian children | Egyptian Liver Journal | Full Text

  https://eglj.springeropen.com/articles/10.1186/s43066-022-00176-1

  In Egypt, a lack of awareness of such inherited diseases by the physicians particularly in the rural community leads to delayed diagnosis or misdiagnosis and recurrent metabolic crises with irreversible damage or death of the affected neonates before starting the diagnosis. […] This reflected the important influence of consanguinity in this specific health problem in Egypt due to lack of early detection, and absence of genetic follow-up and counseling when having a confirmed case. […] In the current study, the most common IEMs were organic acidemias detected in 62.5%, aminoacidopathies in 25%, fatty acid oxidation disorders in 7.5%, and lactic acidemia in 4%. […] The use of such rapid non-invasive robust coupled metabolomics techniques (MS/MS and GC/MS) should be taken into consideration as a novel mean to enhance the scale of IEMs disease classes correlated with pathophysiology, therapy modalities, and follow-up strategies in addition to genetic counseling and prenatal diagnosis in future gestations.

• #28 Inherited Metabolic Disorders Program | Children’s National Hospital

  https://www.childrensnational.org/get-care/departments/inherited-metabolic-disorders-program

  Inherited metabolic disorders are rare among the general population and may often be misdiagnosed, as symptoms often mirror those associated with other conditions. […] The Inherited Metabolic Disorders Program provides diagnostic testing, evaluation and management for children with the following inborn errors of metabolism. […] Newborn screening (NBS) is widely recognized as an essential, life-saving public health program. […] All states and the District of Columbia have established NBS programs to identify treatable disorders before they cause serious health problems. […] The Children’s National Rare Disease Institutes NBS Follow-Up Program specializes in the evaluation and diagnosis of children who have had an abnormal metabolic newborn screen. […] Inherited metabolic disorders are rare among the general population and may be misdiagnosed, as symptoms often mirror those associated with other conditions. […] There are currently no cures for inherited metabolic disorders, and many of these conditions are associated with frequent hospitalizations and long-term intellectual disability.

• #29 Task Force Informatics Helps Build Comprehensive Profile of Patients with Inherited Metabolic Disorders in Georgia – The Task Force for Global Health

  https://www.taskforce.org/task-force-informatics-helps-build-comprehensive-profile-of-patients-with-inherited-metabolic-disorders-in-georgia/

  Task Force Informatics Helps Build Comprehensive Profile of Patients with Inherited Metabolic Disorders in Georgia […] One of its kind initiative in state aims to better understand the diseases and treatment outcomes. […] Inherited metabolic disorders refer to a host of conditions that are caused by specific enzyme defects that interfere with normal metabolism of protein, fat, or carbohydrates. These disorders require lifelong nutritional intervention in the form of medical foods to prevent death, intellectual disability, and other adverse health outcomes. […] However insurance companies don’t typically cover the cost of these foods as it’s a rare disorder (the incidence in the U.S. is around 1 in 15,000 births), and medical foods are not considered a treatment the way a drug is. […] Singh says using PHII’s increased informatics capacity is enabling the program to track patients with metabolic disorders, something that has never been done before anywhere in the world.

• #30 Inherited Metabolic Disorders Care at OHSU

  https://www.ohsu.edu/doernbecher/inherited-metabolic-disorders

  OHSU Doernbecher Childrens Hospital provides state-of-the art care for people with inherited metabolic disorders. We offer: […] Inherited metabolic disorders are genetic conditions. When someone is diagnosed with one, family members may need to be tested. […] As a group, inherited metabolic disorders affect about one in 2,000 people. But single types of metabolic disorders are rare. The most common types affect about 1 in 20,000 people. The least common types affect 1 or 2 of every million people. […] Most inherited metabolic disorders happen when someone inherits a gene that has changed. […] Newborn screening: Every U.S. state tests new babies for inherited metabolic disorders. The types tested for depend on which state a baby is born in. At Doernbecher, babies who test positive are referred to OHSU’s metabolic genetics team.

• #31 Epidemiology of inherited metabolic disorders in newborn screening: insights from three years of experience in Southern Iran. | EBSCOhost

  https://search.ebscohost.com/login.aspx?direct=true&profile=ehost&scope=site&authtype=crawler&jrnl=17501172&AN=183285462&h=wSwCMsp8lKrLkcrmz3qgjS0x0VkfK%2Fgwzf0rLtcHhdBQzL5iCbWUpcNyeRG%2BjUX13iJ2gWN5R1QKfnibeGGjFw%3D%3D&crl=c

  Epidemiology of inherited metabolic disorders in newborn screening: insights from three years of experience in Southern Iran. […] Background: Newborn screening is essential for the early detection of congenital genetic and metabolic disorders, enabling timely intervention to prevent morbidity, mortality, and disabilities associated with inherited metabolic disorders (IMDs). […] Results: Among the screened neonates, 139 patients of IMDs were identified, yielding an estimated birth prevalence of 1:1000. […] The most prevalent IMDs were phenylalanine metabolism disorders, short-chain acyl-CoA dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, and methylmalonic acidemia. […] Notably, the prevalence of IMDs in Fars Province is significantly higher than average global statistics.

• #31 Epidemiology of inherited metabolic disorders in newborn screening: insights from three years of experience in Southern Iran. | EBSCOhost

  https://search.ebscohost.com/login.aspx?direct=true&profile=ehost&scope=site&authtype=crawler&jrnl=17501172&AN=183285462&h=wSwCMsp8lKrLkcrmz3qgjS0x0VkfK%2Fgwzf0rLtcHhdBQzL5iCbWUpcNyeRG%2BjUX13iJ2gWN5R1QKfnibeGGjFw%3D%3D&crl=c

  Our data highlight the efficiency and robustness of neonatal screening for IMD in Iran. […] It demonstrates the need for expanded screening efforts across the entire country. […] Future research should involve nationwide implementation of screening programs to validate our findings and assess the prevalence of IMDs in diverse regions.

• #32 Inherited metabolic disorders in a cohort of Egyptian children | Egyptian Liver Journal | Full Text

  https://eglj.springeropen.com/articles/10.1186/s43066-022-00176-1

  An effective screening program using multiple metabolomic techniques, for early detection of these disorders has long been documented as a critical, life-saving, and real preventive community health facility, not only for early treatment but also for genetic counseling and prenatal diagnosis in future gestations. […] In this regard, this prospective study may be the first time that multiple metabolomic approaches have been utilized to widen the scope of the diagnosis of IEMs in Egypt to diminish morbidity and mortality in high-risk children. […] The introduction of MS/MS and GC/MS allowed the detection of IEMs that supposed to be rare conditions; however, together they are not that rare. […] This study revealed that IEMs were diagnosed in 320/2080 (7.8%) of the cases by the application of two metabolome analyses (MS/MS GC/MS).

• #33 Metabolomic Diagnostic in Inherited Metabolic Disorders: Historical Progress and Future Perspectives | IntechOpen

  https://www.intechopen.com/chapters/1198080

  The classical diagnostic sequence for clinical suspicion of IMD begins with the analysis of a limited number of metabolites in biological fluids. This is followed by the study of potentially altered proteins and is then confirmed by genetic studies. However, this sequence is not always valid, either because a particular IMD does not have specific metabolites or biomarkers, or because the number of tests to be performed is very high. […] Over the years, there has been an evolution in how these diseases are diagnosed, leading to continuous change and evolution in clinical laboratories for IMD diagnostics. […] Currently, reference laboratories for IMD diagnostics can analyze different types of samples such as urine, plasma, dried blood spots (DBS), lymphocytes, granulocytes, and others using various chromatographic systems.

• #34 Healthcare Transition in Inherited Metabolic Disorders—Is a Collaborative Approach between US and European Centers Possible?

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9572070/

  One imperative for designing international IMD-related instruments is that current standardized HCT tools, such as Ready, Steady, Go are not comprehensive enough for IMD and IMD-specific assessments have not been validated. […] Globally, recruitment of adult metabolic physicians and engagement of local clinicians about IMD are critical barriers to successful HCT and transfer. […] International collaboration on HCT will strengthen its delivery. […] Further research and careful planning of coordination of transition care is required to ensure a smooth patients transfer to adult metabolic services and empower them in decision making and improve their adherence to follow-up.

• #35 Healthcare Transition in Inherited Metabolic Disorders—Is a Collaborative Approach between US and European Centers Possible?

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9572070/

  HCT is universally recognized as a critical component of IMD healthcare, yet few providers use validated tools to assess transition readiness. A significant barrier globally is the lack of knowledgeable adult providers in all areas of medicine, especially metabolic and psychology/psychiatry, leading to fragmented care. Limited training opportunities in adolescent and adult metabolic medicine are acknowledged by both groups. Despite the perceived importance of HCT, greater efforts need to be directed toward educating providers and standardizing transition practices. […] Despite systemic differences, the basic tenets of HCT permit international collaboration. […] The main HCT principles are consistent throughout these medical systems. Adolescents need preparation for adult-centered medical care, education and vocational opportunities, income support, and assistance with decision-making.

Zobacz więcej