Malonyl-CoA decarboxilase deficiency. Called Malonic Aciduria
Incidence
Only 6 cases are known. Its cause is unknown.
Clinical Characteristics
There are 2 types. Type 1: mild, with mental retardation. Type 2: severe, with progressive basal ganglia disease.
Precipitants
Unknown.
Provocation Tests
Non existent
Diagnostic Procedures
EB-F, EB-W in type 1. No enzyme deficit in type 2. Also blood tandem MS & urine GC/MS