Short-chain acyl-CoA dehydrogenase deficiency (SCAD). Ethyl-malonic aciduria (EMA)
Incidence
Rare (aprox 12 cases reported for each type), may occur from 2 days to 48 yrs. There are 2 types of EMA: with SCAD and without SCAD.
Clinical Characteristics
Different phenotypes expressions, progressive course to death. Usually with muscle weakness. Occur at any age. Muscle biopsy shows lipid vacuoles,primarily in type I fibers Acidosis tend to be lactic + ketoacidosis. Can be intermittent the metab.acidosis In a different type of EMA (EMA without SCAD), vascular lesions (petechiae, echimosis, microhematuria, intracranial bleeding at basal ganglia) are seen in addition to previous findings.. SCAD activity is reduced to normal. Low plasma carnitine levels. Recently progressive external ophthalmoplegia and multicore myopathy have been reported in some patients.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
EB-muscle, EB-F.