Saccharopinuria

Saccharopinuria
Saccharopine

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

References

  1. 1 2 Online Mendelian Inheritance in Man (OMIM) 268700
  2. ↑ Higashino, K. (1998). "Saccharopinuria (a variant form of familial hyperlysinemia)". Ryoikibetsu shokogun shirizu (18 Pt 1): 191–194. PMID 9590025.
Classification
External resources


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