Multiple acyl-CoA dehydrogenase deficiency (MADD), late-onset form or milder form.(Glutaric aciduria type 2)
Incidence
rare. It is AR disease.
Clinical Characteristics
Episodic hypoglycemia with acidosis but NO KETONES. Low plasma carnitine. Transaminases may be elevated. Often it is a mild disease. Peculiar odor of urine resembling isovaleric acidemia. Recurrent episodes of vomiting, tachypnea, lethargy in children with hypotonia and developmental delay. Cardiomyopathy and renal cysts may be present in some cases.
Precipitants
Heavy protein or fat ingestion.
Provocation Tests
No need. Tandem MS based diagnosis is pathognomonic and rapid.
Diagnostic Procedures
EB-liver,, EB-muscle, EB-F . GC/MS in urine. Tandem MS in blood spots.