Fumaric aciduria (deficient fumarase).
Incidence
Very rare. Found in 9 children with severe neurologic impairment. AR inheritance. Only known Krebbs cycle enzyme defect. No cases reported in Saudi Arabia.
Clinical Characteristics
Onset neonatal to early infancy. Hypothermia, aphagia, FTT, progressive encephalopathy. Cerebral atrophy (CT scan), microcephaly, hypotonia,and eventually opistotonus. In later onset forms is more benign, but will cause severe MR. Very much like alpha-ketoglutaric aciduria. Also rembles early onset PDH
Precipitants
none
Provocation Tests
none
Diagnostic Procedures
EB-F, EB-liver and muscle.