Saccharopinuria

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Saccharopinuria
Classification and external resources
Saccharopine.svg
ICD-9 270.7
OMIM 268700

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[edit]

References[edit]

  1. ^ a b 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.  edit

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