|Other names||Hyperlysinemia type II|
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.
- ↑ "Saccharopinuria". Orphanet. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3124. Retrieved 16 April 2019.
- ↑ 2.0 2.1 Online Mendelian Inheritance in Man (OMIM) Saccharopinuria -268700
- ↑ Higashino, K. (1998). "Saccharopinuria (a variant form of familial hyperlysinemia)". Ryoikibetsu Shokogun Shirizu (18 Pt 1): 191–4. PMID 9590025.
- Saccharopinuria; Alpha-aminoadipic semialdehyde synthase deficiency at NIH's Office of Rare Diseases
Original source: https://en.wikipedia.org/wiki/Saccharopinuria. Read more