2-Methylbutyryl-CoA dehydrogenase deficiency

2-Methylbutyryl-CoA dehydrogenase deficiency 2-Methylbutyryl glycinuria or Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD),610006 2-Methylbutyryl-CoA dehydrogenase deficiency 2-Methylbutanoyl-CoA.png 2-Methylbutyryl-CoA 2-Methylbutyryl-CoA dehydrogenase deficiency is an autosomal recessive metabolic disorder. 17883863 10.1186/1752-1947-1-98 Kanavin O. J. Woldseth B. Jellum E. Tvedt B. Andresen B. S. Stromme P. 2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: A case report Journal of Medical Case Reports 1 98 Sep 2007 2045671 Free full text free 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. Signs and symptoms 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. Watson M. S. Mann M. Y. Lloyd-Puryear M. A. Rinaldo P. Howell R. R. Executive Summary 10.1097/01.gim.0000223891.82390.ad Genetics in Medicine 8 Suppl 1 1S–252S 2006 16783161 3111605 American College of Medical Genetics Newborn Screening Expert Group Newborn screening: Toward a uniform screening panel and system--executive summary Pediatrics 117 5 Pt 2 S296–S307 10.1542/peds.2005-2633I 2006 16735256 free Most cases have been Hmong individuals, who are asymptomatic.de Baulny Helene Ogier Dionisi-Vici Carlo Wendel Udo Jean-Marie Saudubray Georges van den Berghe John H. Walter Inborn Metabolic Diseases: Diagnosis and Treatment 5th 2012 Springer New York 978-3-642-15719-6 277–296 Branched-chain Organic Acidurias/Acidaemias 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. 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. Cause thumb|right|140 px|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). 17945527 10.1016/j.ymgme.2007.09.002 Sass J. Ensenauer R. Röschinger W. Reich H. Steuerwald U. Schirrmacher O. Engel K. Häberle J. Andresen B. Mégarbané A. Lehnert W. Zschocke J. 2-Methylbutyryl-coenzyme a dehydrogenase deficiency: Functional and molecular studies on a defect in isoleucine catabolism Molecular Genetics and Metabolism 93 1 30–35 Jan 2008 It is inherited in an autosomal recessive manner, which means an affected individual must inherit one copy of the mutation from each parent. Diagnosis Most individuals with SBCADD are identified through newborn screening, where they present with an elevation of a five carbon acylcarnitine species. Confirmatory testing includes plasma and urine analysis to identify the carnitine and glycine conjugates of 2-methylbutyryl-CoA. References External links 5C50.E0 E71.1 610006 C566487 34413 444838008 10322 2-methylbutyryl-CoA dehydrogenase deficiency 79157 Q4596905 Category:Amino acid metabolism disorders Category:Autosomal recessive disorders Category:Hmong