Hypervalinemia and hyperleucine-isoleucinemia

Preferred Label : Hypervalinemia and hyperleucine-isoleucinemia;

Symbol : HVLI;

CISMeF acronym : HVLI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Branched-chain aminotransferase deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the branched chain aminotransferase-2 gene (BCAT2, 113530.0001);

Laboratory abnormalities : Moderately increased leucine-isoleucine in plasma; Markedly increased valine in plasma;

Prefixed ID : #618850;

Details

Origin ID

618850;

UMLS CUI

C5394277;

Genes related to phenotype
- Branched-chain aminotransferase 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Brisk reflexes [HPO term]
- Elevated circulating alanine aminotransferase concentration [HPO term]
- Headache [HPO term]
- Hoffmann sign [HPO term]
- Hyperisoleucinemia [HPO term]
- Hyperleucinemia [HPO term]
- Hypervalinemia [HPO term]
- Increased CSF protein [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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