2-ketoglutaric aciduria. Alpha-Ketoglutaric aciduria. Alpha-ketoglutaric acid dehydrogenase deficiency.
Incidence
rare. 2-3 cases in Saudi Arabia.
Clinical Characteristics
There are 3 types: Neonatal with severe primary lactic acidosis, an infantil onset and Childhood onset of unsteady gait, hypotonia, choreoathetosis and spasticity. Abnormal mental functions (mild mental retardation).
Precipitants
none
Provocation Tests
no
Diagnostic Procedures
EB-F