3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
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. (Orphanet Rare Disease Ontology, Orphanet_20)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C538324
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Genes

1 genes/proteins associated with the disease 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase 2.88009