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2-Methylbutyryl-CoA dehydrogenase deficiency

Field	Value
name	2-Methylbutyryl-CoA dehydrogenase deficiency
synonyms	2-Methylbutyryl glycinuria or Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD),
image	2-Methylbutanoyl-CoA.png
caption	2-Methylbutyryl-CoA

2-Methylbutyryl-CoA dehydrogenase deficiency is an autosomal recessive metabolic disorder. 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. Most cases have been Hmong individuals, who are asymptomatic. 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

date = Jan 2008 }}</ref> It is inherited in an autosomal recessive manner, which means an affected individual must inherit one copy of the mutation from each parent.<ref name=aur07/>

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

{{OMIM. 610006. 2-Methylbutyryl-CoA dehydrogenase deficiency
(Sep 2007). "2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: A case report". Journal of Medical Case Reports.
(2006). "Executive Summary". Genetics in Medicine.
(2006). "Newborn screening: Toward a uniform screening panel and system--executive summary". Pediatrics.
(2012). "Inborn Metabolic Diseases: Diagnosis and Treatment". Springer.
(Jan 2008). "2-Methylbutyryl-coenzyme a dehydrogenase deficiency: Functional and molecular studies on a defect in isoleucine catabolism". Molecular Genetics and Metabolism.

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

amino-acid-metabolism-disorders autosomal-recessive-disorders hmong

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