Saccharopinuria
Synonyms: Hyperlysinemia type II | Saccharopine dehydrogenase deficiency
A rare autosomal recessive disorder of the lysine catabolism characterized by elevated levels of lysine in the cerebrospinal fluid and blood with variable degrees of saccharopinuria. Some patients present with neurological symptoms such as seizures spastic diplegia mild psychomotor delay intellectual deficit and behavioral difficulties. However current findings suggest no causal association between isolated hyperlysinemia and neurological symptoms.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Saccharopinuria?
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