2-Methylbutyryl-CoA dehydrogenase deficiency

2-Methylbutyryl-CoA dehydrogenase deficiency
Classification and external resources
2-Methylbutyryl-CoA
OMIM	610006
DiseasesDB	34413

2-Methylbutyryl-CoA dehydrogenase deficiency, also called 2-Methylbutyryl glycinuria or short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD),^[1] is an autosomal recessive metabolic disorder.^[2] It causes the body to be unable to process the amino acid isoleucine properly.

Signs and symptoms

Untreated SBCADD can lead to progressive loss of motor skills, mental retardation and epilepsy.^{[citation needed]}

Cause and genetics

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][3] It is inherited in an autosomal recessive manner.^[2] This means the defective gene responsible for the disorder is located on an autosome (chromosome 10 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

References

External links

• Short descriptions of genetic disorders from wadsworth.org

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