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Article

Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (PGM1) gene.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Jul 2018

Ding Yu, Li Niu, Chang Gouying, Li Juan, Yao Ruen, Shen Yiping, Wang Jian, Huang Xiaodong, Wang Xiumin

Abstract excerpt

Background The phosphoglucomutase 1 (PGM1) enzyme plays a central role in glucose homeostasis by catalyzing the inter-conversion of glucose 1-phosphate and glucose 6-phosphate. Recently, PGM1 deficiency has been recognized as a cause of the congenital disorders of glycosylation (CDGs). Methods Two Chinese Han pediatric patients with recurrent hypoglycemia, hepatopathy and growth retardation are described in this...

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Source

Identifiers

PMID: 29858906
DOI: 10.1515/jpem-2017-0551

Genes

PGM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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