Catalog

2-methylbutyric aciduria

No MMS code

Link to WHO Definition

2-methylbutyric aciduria – http://id.who.int/icd/entity/1141171278

2-Methylbutyryl-CoA dehydrogenase (or Short/branched-chain acyl-coA dehydrogenase; SBCAD) deficiency is an organic aciduria characterised by increased urinary excretion of 2-methylbutyrylglycine, and increased whole blood and plasma concentrations of 2-methylbutyryl (C5) carnitine, associated from a variable phenotype ranging from asymptomatic patients to those with muscle hypotonia, cerebral palsy, developmental delay, lethargy, hypoglycaemia, and metabolic acidosis.