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2-methylbutyryl-CoA dehydrogenase deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.
Uniprot Description Autosomal recessive disorder and consists of a defect in catabolism of L-isoleucine which is characterized by an increase of 2-methylbutyrylglycine and 2-methylbutyrylcarnitine in blood and urine. Affected individuals have seizures and psychomotor delay as the main clinical features.
Mondo Term and Equivalent IDs
MONDO:0012392:  2-methylbutyryl-CoA dehydrogenase deficiency
GARD:0010322: 
MESH:C566487: 
NCIT:C98863: 
Orphanet:79157: 
UMLS:C1864912: