HMG-CoA synthase 2 deficiency

Term ID

DOID:0081168

Synonyms

• 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency

Definition

An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12. (2)

References

• GARD:2712
• OMIM:605911
• ORDO:35701

Ontology

Human Disease   ( DOID:0081168 )