Saccharopinuria

Saccharopinuria
Saccharopine
Classification and external resources
ICD-10	E72.3
ICD-9-CM	270.7
OMIM	268700
MeSH	C537218
Orphanet	3124

Saccharopinuria (an excess of saccharopine in the urine), also called saccharopinemia, saccharopine dehydrogenase deficiency or alpha-aminoadipic semialdehyde synthase deficiency,^[1] is a variant form of hyperlysinemia.^[2] 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.^[1]

See also

• Hyperlysinemia

References

External links

• Saccharopinuria; Alpha-aminoadipic semialdehyde synthase deficiency at NIH's Office of Rare Diseases