Saccharopinuria
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Saccharopinuria | |
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Other names | Hyperlysinemia type II[1] |
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Saccharopine |
Saccharopinuria (an excess of saccharopine in the urine), also called saccharopinemia, saccharopine dehydrogenase deficiency or alpha-aminoadipic semialdehyde synthase deficiency,[2] is a variant form of hyperlysinemia.[3] 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.[2]
See also[]
References[]
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Saccharopinuria". www.orpha.net. Retrieved 16 April 2019.
- ^ a b Online Mendelian Inheritance in Man (OMIM): 268700
- ^ Higashino, K. (1998). "Saccharopinuria (a variant form of familial hyperlysinemia)". Ryoikibetsu Shokogun Shirizu (18 Pt 1): 191–194. PMID 9590025.
External links[]
- Saccharopinuria; Alpha-aminoadipic semialdehyde synthase deficiency at NIH's Office of Rare Diseases
Categories:
- Amino acid metabolism disorders
- Rare diseases
- Genetic disorder stubs