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

Disease ID:7
Name:3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency
Associated with:1 target
Database Links
OMIM: 605911
Orphanet: ORPHA35701


hydroxymethylglutaryl-CoA synthase 2
References:  2
Mutations:  hydroxymethylglutaryl-CoA synthase 2 is associated with 1 mutation. Click here for details


No ligand related data available for 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency


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1. Bouchard L, Robert MF, Vinarov D, Stanley CA, Thompson GN, Morris A, Leonard JV, Quant P, Hsu BY, Boneh A et al.. (2001) Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients. Pediatr. Res., 49 (3): 326-31. [PMID:11228257]

2. Thompson GN, Hsu BY, Pitt JJ, Treacy E, Stanley CA. (1997) Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase. N. Engl. J. Med., 337 (17): 1203-7. [PMID:9337379]