Fasting Hypoketotic Coma in a Child with Deficiency of Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase

• Published in: The New England journal of medicine Vol. 337; no. 17; pp. 1203 - 1207
• Main Authors: Thompson, Geoffrey N, Hsu, Betty Y.L, Pitt, James J, Treacy, Eileen, Stanley, Charles A
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 23.10.1997
• Subjects: Biological and medical sciences; Child; Citrate (si)-Synthase - metabolism; Coma - etiology; Errors of metabolism; Fasting - metabolism; Humans; Hydroxy Acids - blood; Hydroxymethylglutaryl-CoA Synthase - deficiency; Hydroxymethylglutaryl-CoA Synthase - metabolism; Hypoglycemia - etiology; Ketone Bodies - biosynthesis; Ketones - blood; Lipids (lysosomal enzyme disorders, storage diseases); Liver - enzymology; Male; Medical sciences; Metabolic diseases; Mitochondria, Liver - enzymology; Reference Values; Human; Coma; Ketone body; Nervous system diseases; Fasting; Consciousness impairment; Deficiency; Metabolic diseases; Biological activity; Mitochondrial disorder; Case study; Etiology; Risk factor; Metabolic activation; Neurological disorder; Child
• ISSN: 0028-4793; 1533-4406
• DOI: 10.1056/NEJM199710233371704

Fasting is accompanied by a decrease in the availability of glucose for energy use in peripheral tissues and, consequently, an increased reliance of these tissues on the availability of ketone bodies and fatty acids for energy. The availability of ketone bodies depends almost exclusively on hepatic ketogenesis. Failure of ketogenesis may occur in patients with any defect of the enzymes associated with the mitochondrial oxidation of fatty acids. 1 These defects are typically manifested by hypoglycemia, which results from the inadequate supply of alternative substrate (ketones). Other clinical features are more variable and may include myopathy, cardiomyopathy, hepatocellular damage, and neuropathies. . . .