ABSTRACT
Hypoketotic hypoglycemia, recurrent myoglobinuria, encephalopathy, and cardiomyopathy; or hyperketotic hypoglycemia, failure to thrive, and hypotonia; elevated creatine kinase; dicarboxylic aciduria; and defective activity of HADH in muscle fibroblasts and leukocytes. Some patients with familial hyperinsulinemia hypoglycemia (HHF4) have mutations in the HADH gene.
