Saccharopinuria

id: saccharopinuria-297-562441
title: Saccharopinuria
text: Saccharopinuria, 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.
brand slug: wiki
category slug: encyclopedia
description: Medical condition
original url: https://en.wikipedia.org/wiki/Saccharopinuria
date created:
date modified: 2023-10-05T08:51:59Z
main entity: {"identifier":"Q7396610","url":"https://www.wikidata.org/entity/Q7396610"}
image: {"content_url":"https://upload.wikimedia.org/wikipedia/commons/6/6b/Saccharopine.svg","width":512,"height":308}
fields total: 13
integrity: 15

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