Preferred Label : Isovaleric aciduria;
ICD-11 definition : Isovalericacidemia is caused by a deficit in isovaleryl CoA dehydrogenase which affects
leucine metabolism. The disease is transmitted by autosomal recessive inheritance.
The estimated prevalence in the general population of Europe is 1/100 000. As of the
first days of life, newborns can present vomiting, dehydration, coma and abnormal
movements. Biological examinations show metabolic acidosis with ketosis, hyperammonemia,
neutropenia, thrombopenia, hypocalcemia. Treatment is based on a moderate restriction
of proteins in the diet and oral administration of glycine and carnitine which assure
effective clearance of isovaleryl CoA.;
ICD-11 synonym : Isovaleric acidaemia; Isovaleric acid CoA dehydrogenase deficiency;
Origin ID : 1817788413;
UMLS CUI : C0268575;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
Isovalericacidemia is caused by a deficit in isovaleryl CoA dehydrogenase which affects
leucine metabolism. The disease is transmitted by autosomal recessive inheritance.
The estimated prevalence in the general population of Europe is 1/100 000. As of the
first days of life, newborns can present vomiting, dehydration, coma and abnormal
movements. Biological examinations show metabolic acidosis with ketosis, hyperammonemia,
neutropenia, thrombopenia, hypocalcemia. Treatment is based on a moderate restriction
of proteins in the diet and oral administration of glycine and carnitine which assure
effective clearance of isovaleryl CoA.
