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3-hydroxy-3-methylglutaric aciduria

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.
Uniprot Description An autosomal recessive disease affecting ketogenesis and L-leucine catabolism. The disease usually appears in the first year of life after a fasting period and its clinical acute symptoms include vomiting, seizures, metabolic acidosis, hypoketotic hypoglycemia and lethargy. These symptoms sometimes progress to coma, with fatal outcome in some cases.
Mondo Term and Equivalent IDs
MONDO:0009520:  3-hydroxy-3-methylglutaric aciduria
GARD:0008387: 
MESH:C538324: 
NCIT:C84523: 
Orphanet:20: 
SCTID:410059004: 
UMLS:C0268601: 
UMLS:C1533587: