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Article

Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function.

Journal of inherited metabolic disease - 1 Mar 2015

Beamer Lesa J

Abstract excerpt

Recent studies have identified phosphoglucomutase 1 (PGM1) deficiency as an inherited metabolic disorder in humans. PGM1 deficiency is classified as both a muscle glycogenosis (type XIV) and a congenital disorder of glycosylation of types I and II. Affected patients show multiple disease phenotypes, reflecting the central role of the enzyme in glucose homeostasis, where it catalyzes the interconversion of glucose...

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Source

Identifiers

PMID: 25168163
DOI: 10.1007/s10545-014-9757-9

Genes

PGM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function.PMID 25168163Read ↗

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