Preferred Label : Hypervalinaemia;
ICD-11 definition : This is a rare autosomal recessive metabolic disorder in which urinary and serum levels
of the branched-chain amino acid valine are elevated, without related elevation of
the branched-chain amino acids leucine and isoleucine.;
ICD-11 synonym : Valine transaminase deficiency; Valinaemia;
Origin ID : 113258236;
UMLS CUI : C0268573;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
This is a rare autosomal recessive metabolic disorder in which urinary and serum levels
of the branched-chain amino acid valine are elevated, without related elevation of
the branched-chain amino acids leucine and isoleucine.
