Dicarboxylic aminoaciduria
id:
dicarboxylic-aminoaciduria-282-13556829
title:
Dicarboxylic aminoaciduria
text:
Dicarboxylic aminoaciduria is a rare form of aminoaciduria which is an autosomal recessive disorder of urinary glutamate and aspartate due to genetic errors related to transport of these amino acids. Mutations resulting in a lack of expression of the SLC1A1 gene, a member of the solute carrier family, are found to cause development of dicarboxylic aminoaciduria in humans. SLC1A1 encodes for EAAT3 which is found in the neurons, intestine, kidney, lung, and heart. EAAT3 is part of a family of high
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Dicarboxylic_aminoaciduria
date created:
date modified:
2023-09-14T12:59:36Z
main entity:
{"identifier":"Q16252204","url":"https://www.wikidata.org/entity/Q16252204"}
image:
fields total:
13
integrity:
14