The diagnosis of mitochondrial HMG-CoA synthase deficiency.
Deficiency of 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase, the only disorder exclusively affecting hepatic ketogenesis, is a cause of hypoglycemic coma. We report that the diagnosis can be made by typical laboratory findings (hypoketosis, elevated free fatty acids, normal acylcarnitines, specific urinary organic acids) during acute episodes.
Zschocke
Johannes
J
Division of Metabolic and Endocrine Diseases, University Children's Hospital, Heidelberg, Germany.
Penzien
Johannes M
JM
Bielen
Rainer
R
Casals
Núria
N
Aledo
Rosa
R
Pié
Juan
J
Hoffmann
Georg F
GF
Hegardt
Fausto G
FG
Mayatepek
Ertan
E
D003066:Coenzyme A Ligases / Q000172:deficiency*; D004252:DNA Mutational Analysis; D005215:Fasting / Q000378:metabolism; D005260:Female; D006801:Humans; D006904:Hydroxymethylglutaryl-CoA Synthase; D007003:Hypoglycemia / Q000201:enzymology; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D008930:Mitochondria, Liver / Q000201:enzymology*; D008968:Molecular Conformation
D006904:Hydroxymethylglutaryl-CoA Synthase; D003066:Coenzyme A Ligases