Preferred Label : 2-methylbutyric aciduria;
ICD-11 definition : 2-Methylbutyryl-CoA dehydrogenase (or Short/branched-chain acyl-coA dehydrogenase;
SBCAD) deficiency is an organic aciduira characterized by increased urinary excretion
of 2-methylbutyrylglycine, and increased whole blood and plasma concentrations of
2-methylbutyryl (C5) carnitine, associated from avariable phenptype ranging from asymptomatic
patients to those with muscle hypotonia, cerebral palsy, developmental delay, lethargy,
hypoglycemia, and metabolic acidosis.;
ICD-11 synonym : Short/branched-chain acyl-coA dehydrogenase deficiency; SBCAD deficiency; Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency; SBCAD - [Short/branched-chain acyl-coA dehydrogenase] deficiency; 2-methylbutyryl glycinuria;
Origin ID : 1141171278;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
2-Methylbutyryl-CoA dehydrogenase (or Short/branched-chain acyl-coA dehydrogenase;
SBCAD) deficiency is an organic aciduira characterized by increased urinary excretion
of 2-methylbutyrylglycine, and increased whole blood and plasma concentrations of
2-methylbutyryl (C5) carnitine, associated from avariable phenptype ranging from asymptomatic
patients to those with muscle hypotonia, cerebral palsy, developmental delay, lethargy,
hypoglycemia, and metabolic acidosis.
