Ribose-5-phosphate isomerase deficiency

id: ribose-5-phosphate-isomerase-deficiency-176-18515517
title: Ribose-5-phosphate isomerase deficiency
text: Ribose-5-phosphate isomerase deficiency (RPID) is a rare human disorder caused by mutations in ribose-5-phosphate isomerase, an enzyme of the pentose phosphate pathway. With only four diagnosed patients over a 27-year period, RPI deficiency is the second rarest disease known as of now, being beaten only by Fields Condition affecting two known individuals, Catherine and Kirstie Fields.
brand slug: wiki
category slug: encyclopedia
description: Rare metabolic genetic disorder resulting in leukoencephalopathy
original url: https://en.wikipedia.org/wiki/Ribose-5-phosphate_isomerase_deficiency
date created: 2010-07-25T21:27:40Z
date modified: 2024-09-03T23:39:32Z
main entity: {"identifier":"Q6583504","url":"https://www.wikidata.org/entity/Q6583504"}
image:
fields total: 13
integrity: 15

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