Hyperlysinemia II. Saccharopinuria.. Saccharopine dehydrogenase deficiency
Incidence
It is a very rare disorder. Probable AR.
Clinical Characteristics
It is due to saccharopine dehydrogenase deficiency (aminoadipic semialdehyde-glutamate reductase deficiency). There are no specific clinical symptoms or findings but mental retardation has been found in adults. Also small stature was observed in those patients. Spastic diplegia may exist. Saccharopine and lysine are elevated in urine, plasma and CSF. Citrulline is elevated in urine and plasma. EEG has been reported abnormal. A benefit from protein restriction has not yet been proven.
Precipitants
No
Provocation Tests
No
Diagnostic Procedures
Quantitative analysis of aminoacids in plasma, urine and CSF.