Multiple acyl-CoA dehydrogenase deficiency (MADD) Neonatal form with dysmorphia (Glutaric aciduria type 2)
Incidence
Rare. AR disorder. Due to defect of electron transfer of flavoprotein (ETF) or more frequently of ETF dehydrogenase (ETF: ubiquinone oxidoreductase)
Clinical Characteristics
Multisystem involvement with rapid death. Always fatal. Onset 24-48 h, with hypotonia, severe hypoglycemia, at times metabolic acidosis (lactic and short chain acids) NO KETONES. Hepatomegaly. occasionally seizures. "Sweaty feet" smell may occasionally occur. Absent abdominal muscles. Rocker bottom feet. Abnormal genitalia. Large cystic kidneys.
Precipitants
none
Provocation Tests
Lysine loading (60 mg/kg/d) in 3 equal doses) increases metabolites; leucine (100 mg/kg) serves as control. Medium-chain triglyceride loading (150 mg/kg) given together with glycine (250 mg/kg) causes increased excretion of metabolites. Since tandem MS based acylcarnitines are very specific, no provocation tests are needed.
Diagnostic Procedures
EB-liver, EB-muscle, EB-F Tandem MS or acyl-carnitine profile in blood.