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Metadata
ID DOID:0060950
Name hypervalinemia and hyperleucine-isoleucinemia
Definition An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13.
https://pubmed.ncbi.nlm.nih.gov/25653144/
Xrefs

MIM:618850

Synonyms

branched-chain aminotransferase 2 deficiency [EXACT]

Parent Relationships

is_a amino acid metabolic disorder

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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