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Article

Discovery of a Genetic Metabolic Cause for Mauriac Syndrome in Type 1 Diabetes.

Diabetes - 1 Jul 2016

MacDonald Michael J, Hasan Noaman M, Ansari Israr-Ul H, Longacre Melissa J, Kendrick Mindy A, Stoker Scott W

Abstract excerpt

A mechanistic cause for Mauriac syndrome, a syndrome of growth failure and delayed puberty associated with massive liver enlargement from glycogen deposition in children with poorly controlled type 1 diabetes, is unknown. We discovered a mutation in the catalytic subunit of liver glycogen phosphorylase kinase in a patient with Mauriac syndrome whose liver extended into his pelvis. Glycogen phosphorylase kinase...

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PMID: 27207549
DOI: 10.2337/db16-0099

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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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