Details of Disease | DrugMAP

General Information of Disease (ID: DISRFO1R)

Disease Name	Hypervalinemia and hyperleucine-isoleucinemia
Synonyms	HVLI; branched-chain aminotransferase deficiency; hypervalinemia and hyperleucine-isoleucinemia; hypervalinemia or hyperleucine-isoleucinemia
Definition	Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective -keto acids.
Disease Hierarchy	DISOGOR1: Inborn disorder of branched-chain amino acid metabolism DISRFO1R: Hypervalinemia and hyperleucine-isoleucinemia
Disease Identifiers	MONDO ID MONDO_0100058 UMLS CUI C5394277 OMIM ID 618850 MedGen ID 1719306

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BCAT2	TTF9OQ6	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BCAT2	OT8L6EGI	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.