2-methylbutyryl-CoA dehydrogenase deficiency
Name: |
2-methylbutyryl-CoA dehydrogenase deficiency
|
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.
|
ORPHAcode: |
79157
|
Synonyms: |
2-methylbutyric aciduria
Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
SBCAD deficiency
Short/branched-chain acyl-coA dehydrogenase deficiency
|
XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
|
Changed: |
22 Jun 2023 - 16:14
|