3-Methylglutaconic aciduria with normal hydratase (type 4 or special variants), 4a Costeff syndrome or Iraqi-Jewish disease, 4b variant with extrapyramidal signs.
Incidence
23 pts with Costeff Syndrome, 3 pts with extrapyramidal symptoms
Clinical Characteristics
Costeff Synd: early optic atrophy,later extrapyram Sx and ataxia, most occur > 6 yrs. In pts. with extrapyr. variant usually occur < 2 yrs, with severe extrapyramidal symptoms.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
GC/MS