3-Methylglutaconic aciduria with deficient hydratase (type 1)
Incidence
very rare (3 pts)
Clinical Characteristics
Speech disturbance. Mild mental retardation.
Precipitants
no
Provocation Tests
Leucine loading 250 mg/kg/dose will increase the excreted organic acids.
Diagnostic Procedures
EB-F, GC/MS