Short chain 3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD deficiency)
Incidence
Very rare. 3 pts. reported. Clinically looks like LCHAD
Clinical Characteristics
One patient presented in infancy with recurrent hypoglycemic encephalopathy and liver involvement, with death at 11 months. Other had recurrent hypoketotic hypoglycemia, recurrent myoglobinuria and cardiomyopathy at age 16 years, then died. Urine showed dicarboxylic and 3-hydroxy-dicarboxylic aciduria. Low plasma carnitine with elevated esterified fraction.
Precipitants
no
Provocation Tests
none
Diagnostic Procedures
Urine showed dicarboxylic and 3-hydroxy-dicarboxylic aciduria. EB-F, EB-M