Saccharopinuria. Saccharopine dehydrogenase deficiency
Incidence
Autosomal recessive. Very rare disease.
Clinical Characteristics
Rare condition, characterized clinically by Mental retardation, spastic diplegia and short stature. The urine contained lysine, citrulline, and histidine, in addition to saccharopine.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Aminoacids in serum and urine. There is also Aminoadipic semialdehyde-glutamate reductase deficiency.