HMG-CoA synthase 2 deficiency

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 ha

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.

Signs and symptoms

• Diarrhea
• Elevated circulating aspartate aminotransferase concentration
• Vomiting
• Increased circulating free fatty acid level
• Elevated circulating alanine aminotransferase concentration
• Increased circulating lactate dehydrogenase concentration
• Hypophosphatemia
• Hypoglycemic coma
• Dicarboxylic aciduria
• Seizure

Also known as: 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency