Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency

American Journal of Medical Genetics. Part a
Neta LoewenthalEli Hershkovitz

Abstract

Phosphoglucomutase 1 (PGM1, EC 5.4.2.2) plays a critical role in glucose homeostasis and is also essential for protein N-glycosylation. The main clinical manifestations of PGM1 deficiency (MIM 614921) reported in 19 patients from different ethnic backgrounds include the following: cleft uvula/palate, Pierre Robin sequence, muscle weakness, dilated cardiomyopathy, growth retardation, elevated serum transaminases, hypoglycemia, and various endocrine abnormalities. We report the variable clinical picture of seven patients with PGM1 deficiency from a consanguineous family. Medical records of the patients were reviewed for clinical details and endocrine evaluation. Whole exome sequencing (WES) was performed. Seven patients aged 2-29 years were included, one patient died at 13 years old when getting off the school bus. All patients have an abnormal palatine structure (cleft palate, bifid uvula) and elevated serum transaminases, 4/7 have short stature (<-2 SDS) and one was diagnosed with growth hormone deficiency. Recurrent episodes of ketotic hypoglycemia were present in 6/7 patients. In two patients, hypoglycemic episodes have spontaneously resolved later on. Four out of seven patients have deteriorating adrenal function with abnorm...Continue Reading

References

Sep 1, 1982·The Journal of Clinical Endocrinology and Metabolism·W L Miller, L K Johnson
Dec 14, 2007·Proceedings of the National Academy of Sciences of the United States of America·Julien A Sebag, Patricia M Hinkle
Jul 25, 2009·The New England Journal of Medicine·Tanya StojkovicPascal Laforêt
Oct 23, 2013·Frontiers in Endocrinology·Akiyoshi Takahashi, Kanta Mizusawa
Feb 7, 2014·The New England Journal of Medicine·Laura C TegtmeyerThorsten Marquardt

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Citations

Jan 25, 2017·The FEBS Journal·Kyle M StiersLesa J Beamer
Jun 3, 2018·Journal of Pediatric Endocrinology & Metabolism : JPEM·Yu DingXiumin Wang
May 12, 2019·Journal of Inherited Metabolic Disease·Bijina BalakrishnanKent Lai
Jul 25, 2017·Current Opinion in Neurology·Pascal LaforêtJohn Vissing
Feb 15, 2020·Journal of Inherited Metabolic Disease·Kyle M StiersLesa J Beamer
Nov 6, 2020·The Journal of Clinical Endocrinology and Metabolism·Odeya DavidEli Hershkovitz
Jul 19, 2020·Journal of Inherited Metabolic Disease·Ruqaiah AltassanEva Morava
Jan 22, 2021·JIMD Reports·Sarah E DonoghueJoy Yaplito-Lee

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