Approach To Inborn Error Of Metabolism
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inborn errors of metabolism Approach to inborn errors of metabolism Click for pdf: Approach to inborn errors of approach to inborn errors of metabolism pdf metabolism Introduction Also known as biochemical diseases, inherited metabolic disorders are mostly approach to metabolic disorders in neonates single gene disorders that affect one of the biochemical processes of the body. Most are rare but inborn error of metabolism symptoms some are common, for example phenylketonuria (PKU) occurs 1 in 12,000 births (1). Every year in British Columbia, two to three children are born with PKU (2). By inborn error of metabolism examples detecting PKU or other biochemical diseases early, neonatal disease, mental retardation, and mental illness can be prevented. Until recently the following diseases were detected by the newborn screening program in BC: congenital hypothyroidism, PKU, galactosemia, and medium chain acyl-CoA dehydrogenase deficiency (3). However, now with the availability of tandem mass spectrometry, it has become possible to
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screen for up to 30 additional treatable metabolic diseases (4). Current diseases screened for can be seen at: http://www.bcwomens.ca/Services/PregnancyBirthNewborns/NewbornCare/NewbornScreeningProgram/default.htm Basic anatomy and physiology Mostly inherited as autosomal recessive traits, biochemical diseases are due to an enzyme or transport protein defect. This leads to a deficiency and/or a build-up of metabolites. Either the deficiency of essential products or the inability to eliminate precursors is directly responsible for disease manifestations. Classes of metabolism diseases Metabolic diseases can be categorized according to the different nutritional components in which the abbarrent metabolism may be found: Proteins Amino acid metabolism (examples are phenylketonuria and maple syrup urine disease). There is aberrant synthesis or breakdown of amino acids. (Screened for with panels of urine organic acids and serum amino acids.) Urea cycle disorders. There is an enzyme deficiency resulting in aberrant degradation of nitrogen compounds. (Screened for with serum ammonia level.) Carbohydrates Disorders of Carbohydrate metabolism Glycogen storage diseases Storage diseases Lysosomal storage diseases Peroxisomal disorders Fats Disorders of Fatty Acid metabolism - Mitoc
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enter your username and password the next time you visit. Log out Cancel inborn error of metabolism diagnosis https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cDovL2VtZWRpY2luZS5tZWRzY2FwZS5jb20vYXJ0aWNsZS84MDQ3NTctb3ZlcnZpZXc= processing.... Inborn Errors of Metabolism Author: Debra L Weiner, MD, PhD; Chief Editor: Stephen Kemp, MD, PhD inborn error of metabolism review more... Overview Presentation DDx Workup Treatment Medication Follow-up Updated: Feb 18, 2015 What would you like to print? Print this section Print the entire contents of Background Pathophysiology Epidemiology Show http://learn.pediatrics.ubc.ca/body-systems/neonate/approach-to-inborn-errors-of-metabolism/ All Tables References Background Inborn errors of metabolism (IEMs) individually are rare but collectively are common. Presentation is usually in the neonatal period or infancy but can occur at any time, even in adulthood. Diagnosis does not require extensive knowledge of biochemical pathways or individual metabolic diseases. An understanding of the major clinical manifestations of inborn errors of metabolism provides the basis for knowing http://emedicine.medscape.com/article/804757-overview when to consider the diagnosis. A high index of suspicion is most important in making the diagnosis. For patients with suspected or known inborn errors of metabolism, successful emergency treatment depends on prompt institution of therapy aimed at metabolic stabilization. Asymptomatic neonates with newborn screening results positive for an inborn error of metabolism may require emergent evaluation including confirmatory testing, and as appropriate, initiation of disease-specific management. Next Pathophysiology Single gene defects result in abnormalities in the synthesis or catabolism of proteins, carbohydrates, fats, or complex molecules. Most are due to a defect in an enzyme or transport protein, which results in a block in a metabolic pathway. Effects are due to toxic accumulations of substrates before the block, intermediates from alternative metabolic pathways, defects in energy production and use caused by a deficiency of products beyond the block, or a combination of these metabolic deviations. Nearly every metabolic disease has several forms that vary in age of onset, clinical severity, and, often, mode of inheritance. Categories of inborn errors of metabolism, or IEMs, are as follows: Disorders that result in toxic accumulation Disorders of protein metabolism (eg, amino acidopathi
allows you to search in the languages below. Please select your preference. Topics will continue to be in English. 简体中文 http://www.uptodate.com/contents/inborn-errors-of-metabolism-metabolic-emergencies 繁體中文 Deutsch English Español Français Italiano 日本語 한국어 * Português *Currently in beta testing. Languages About Us News & Events Contact Us Help Why UpToDate? Product Editorial Subscription Options Subscribe Official reprint from UpToDate www.uptodate.com ©2016 UpToDate Print | Back Inborn errors of metabolism: Metabolic emergencies AuthorV Reid Sutton, MDV Reid Sutton, MDProfessor of Molecular and Human Genetics Baylor College of MedicineSection inborn error EditorSihoun Hahn, MD, PhDSihoun Hahn, MD, PhDSection Editor — Genetics Professor of Pediatrics University of Washington School of Medicine, Seattle Children's HospitalDeputy EditorElizabeth TePas, MD, MSElizabeth TePas, MD, MSDeputy Editor — Allergy and Immunology Deputy Editor — Pediatrics Instructor in Medicine Harvard Medical School INTRODUCTIONCongenital metabolic disorders result from the absence or abnormality of an enzyme or its cofactor, leading to inborn error of either accumulation or deficiency of a specific metabolite (table 1 and table 2 and table 3 and table 4 and table 5 and table 6).The presenting features of inborn errors of metabolism (IEM) may be acute or chronic. Acute signs include episodic vomiting accompanied by dehydration or shock, lethargy and coma, rhabdomyolysis, and hypoglycemia associated with minor illnesses, stress, or a prolonged fast. Chronic signs of metabolic disease include growth delay/failure to thrive (FTT), hepatomegaly, cardiomyopathy, spastic diplegia, and developmental delay or regression.Optimal outcome for children with IEM depends upon recognition of the signs and symptoms of metabolic disease, prompt evaluation, and referral to a center familiar with the evaluation and management of these disorders [1]. Delay in diagnosis may result in acute metabolic decompensation, progressive neurologic injury, or death.This topic provides an overview of the presentation, initial evaluation, and management of children with suspected IEM who present with acute metabolic decompensation. Confirmation of diagnosis of specific disorders typically requires specialized testing and should be undertaken in consultation with a specialist in genetics or metabolic diseases. Determination of the specific IEM is reviewed
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