SBCADD is included as a secondary target condition in most newborn screening programs, as the key analyte is the same as is used to identify isovaleric acidemia.[3][4] Most cases have been Hmong individuals, who are asymptomatic.[5] There are isolated case reports where individuals have been identified with SBCADD in addition to developmental delay and epilepsy. It is currently unclear what the complete clinical presentation of SBCADD looks like. There is some concern that these cases with additional symptoms may reflect an ascertainment bias rather than being a true representation of the clinical spectrum of the disease.[1] Currently, there is no accepted treatment, as most affected individuals do not require any. Some recommend avoidance of valproic acid, as it can be a substrate for 2-methylbutyryl-CoA dehydrogenase.[5]
Causeedit
2-Methylbutyryl-CoA dehydrogenase deficiency has an autosomal recessive pattern of inheritance.
The disorder is caused by a mutation in the ACADSBgene, located on the long arm of human chromosome 10 (10q25-q26).[1][6] It is inherited in an autosomal recessive manner, which means an affected individual must inherit one copy of the mutation from each parent.[2]
Diagnosisedit
Most individuals with SBCADD are identified through newborn screening, where they present with an elevation of a five carbon acylcarnitine species.[1] Confirmatory testing includes plasma and urine analysis to identify the carnitine and glycine conjugates of 2-methylbutyryl-CoA.[1]
Treatmentedit
This section is empty. You can help by adding to it. (April 2018)
^ abKanavin, O. J.; Woldseth, B.; Jellum, E.; Tvedt, B.; Andresen, B. S.; Stromme, P. (Sep 2007). "2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: A case report". Journal of Medical Case Reports (Free full text). 1: 98. doi:10.1186/1752-1947-1-98. PMC2045671. PMID 17883863.
^Watson, M. S.; Mann, M. Y.; Lloyd-Puryear, M. A.; Rinaldo, P.; Howell, R. R. (2006). "Executive Summary". Genetics in Medicine. 8 (Suppl 1): 1S–252S. doi:10.1097/01.gim.0000223891.82390.ad. PMC3111605. PMID 16783161.
^American College of Medical Genetics Newborn Screening Expert Group (2006). "Newborn screening: Toward a uniform screening panel and system--executive summary". Pediatrics. 117 (5 Pt 2): S296–S307. doi:10.1542/peds.2005-2633I. PMID 16735256.
^ abde Baulny, Helene Ogier; Dionisi-Vici, Carlo; Wendel, Udo (2012). "Branched-chain Organic Acidurias/Acidaemias". In Saudubray, Jean-Marie; van den Berghe, Georges; Walter, John H. (eds.). Inborn Metabolic Diseases: Diagnosis and Treatment (5th ed.). New York: Springer. pp. 277–296. ISBN978-3-642-15719-6.
^Sass, J.; Ensenauer, R.; Röschinger, W.; Reich, H.; Steuerwald, U.; Schirrmacher, O.; Engel, K.; Häberle, J.; Andresen, B.; Mégarbané, A.; Lehnert, W.; Zschocke, J. (Jan 2008). "2-Methylbutyryl-coenzyme a dehydrogenase deficiency: Functional and molecular studies on a defect in isoleucine catabolism". Molecular Genetics and Metabolism. 93 (1): 30–35. doi:10.1016/j.ymgme.2007.09.002. PMID 17945527.
External linksedit
May 13, 2024
methylbutyryl, dehydrogenase, deficiency, autosomal, recessive, metabolic, disorder, causes, body, unable, process, amino, acid, isoleucine, properly, initial, case, reports, identified, individuals, with, developmental, delay, epilepsy, however, most, cases, . 2 Methylbutyryl CoA dehydrogenase deficiency is an autosomal recessive metabolic disorder 2 It causes the body to be unable to process the amino acid isoleucine properly Initial case reports identified individuals with developmental delay and epilepsy however most cases identified through newborn screening have been asymptomatic 2 Methylbutyryl CoA dehydrogenase deficiencyOther names2 Methylbutyryl glycinuria or Short branched chain acyl CoA dehydrogenase deficiency SBCADD 1 2 Methylbutyryl CoA Contents 1 Signs and symptoms 2 Cause 3 Diagnosis 4 Treatment 5 References 6 External linksSigns and symptoms editSBCADD is included as a secondary target condition in most newborn screening programs as the key analyte is the same as is used to identify isovaleric acidemia 3 4 Most cases have been Hmong individuals who are asymptomatic 5 There are isolated case reports where individuals have been identified with SBCADD in addition to developmental delay and epilepsy It is currently unclear what the complete clinical presentation of SBCADD looks like There is some concern that these cases with additional symptoms may reflect an ascertainment bias rather than being a true representation of the clinical spectrum of the disease 1 Currently there is no accepted treatment as most affected individuals do not require any Some recommend avoidance of valproic acid as it can be a substrate for 2 methylbutyryl CoA dehydrogenase 5 Cause edit nbsp 2 Methylbutyryl CoA dehydrogenase deficiency has an autosomal recessive pattern of inheritance The disorder is caused by a mutation in the ACADSB gene located on the long arm of human chromosome 10 10q25 q26 1 6 It is inherited in an autosomal recessive manner which means an affected individual must inherit one copy of the mutation from each parent 2 Diagnosis editMost individuals with SBCADD are identified through newborn screening where they present with an elevation of a five carbon acylcarnitine species 1 Confirmatory testing includes plasma and urine analysis to identify the carnitine and glycine conjugates of 2 methylbutyryl CoA 1 Treatment editThis section is empty You can help by adding to it April 2018 References edit a b c d e Online Mendelian Inheritance in Man OMIM 2 Methylbutyryl CoA dehydrogenase deficiency 610006 a b Kanavin O J Woldseth B Jellum E Tvedt B Andresen B S Stromme P Sep 2007 2 methylbutyryl CoA dehydrogenase deficiency associated with autism and mental retardation A case report Journal of Medical Case Reports Free full text 1 98 doi 10 1186 1752 1947 1 98 PMC 2045671 PMID 17883863 Watson M S Mann M Y Lloyd Puryear M A Rinaldo P Howell R R 2006 Executive Summary Genetics in Medicine 8 Suppl 1 1S 252S doi 10 1097 01 gim 0000223891 82390 ad PMC 3111605 PMID 16783161 American College of Medical Genetics Newborn Screening Expert Group 2006 Newborn screening Toward a uniform screening panel and system executive summary Pediatrics 117 5 Pt 2 S296 S307 doi 10 1542 peds 2005 2633I PMID 16735256 a b de Baulny Helene Ogier Dionisi Vici Carlo Wendel Udo 2012 Branched chain Organic Acidurias Acidaemias In Saudubray Jean Marie van den Berghe Georges Walter John H eds Inborn Metabolic Diseases Diagnosis and Treatment 5th ed New York Springer pp 277 296 ISBN 978 3 642 15719 6 Sass J Ensenauer R Roschinger W Reich H Steuerwald U Schirrmacher O Engel K Haberle J Andresen B Megarbane A Lehnert W Zschocke J Jan 2008 2 Methylbutyryl coenzyme a dehydrogenase deficiency Functional and molecular studies on a defect in isoleucine catabolism Molecular Genetics and Metabolism 93 1 30 35 doi 10 1016 j ymgme 2007 09 002 PMID 17945527 External links edit Retrieved from https en wikipedia org w index php title 2 Methylbutyryl CoA dehydrogenase deficiency amp oldid 1219013170, wikipedia, wiki, book, books, library,
