Saccharopinuria

Saccharopinuria
Saccharopine
Classification and external resources
ICD-10	E72.3
ICD-9-CM	270.7
OMIM	268700
MeSH	C537218
Orphanet	3124
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Saccharopinuria (an excess of saccharopine in the urine), also called saccharopinemia, saccharopine dehydrogenase deficiency or alpha-aminoadipic semialdehyde synthase deficiency, is a variant form of hyperlysinemia. It is caused by a partial deficiency of the enzyme saccharopine dehydrogenase, which plays a secondary role in the lysine metabolic pathway. Inheritance is thought to be autosomal recessive, but this cannot be established as individuals affected by saccharopinuria typically have only a 40% reduction in functional enzyme.

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