Background: The congenital disorders of glycosylation (CDG) are a group of genetic diseases owed to defects in the biosynthesis of glycoproteins and other glycoconjugates. Phosphoglucomutase type 1(PGM1) deficiency is classified among the congenital disorders of glycosylation.Phosphoglucomutase 1 catalyzes the interconversion of glucose-6-phosphate and glucose-1-phosphate ,Glucose-1-phosphate is an important intermediate in the pathways leading to protein Nglycosylation and in glucose homeostasis. Varied range of clinical manifestations recently described includes hepatopathy, bifid uvula, malignant hyperthermia, hypogonadotropic hypogonadism, growth retardation, hypoglycemia, myopathy, dilated cardiomyopathy, and cardiac arrest, ACTH deficiency has been reported but this finding is uncommon
Objective and hypothesis: To report the clinical picture of 7 patients with PGM 1 deficiency from a consanguineous family presented with ketotic hypoglycemia .
Methods: Medical records of the patients were reviewed for clinical details and endocrine evaluation. Whole exome sequencing (WES) was performed.
Results: Seven patients ages between 2-29 are included, one patient died at 13 years old when gets off the school bus. All patients have abnormal palatine structure (cleft palate, bifid ovule),4/7 had short stature
WES revealed previously described homozygous mutation c.112A>T, p.Asn38Tyr in the PGM1 gene.
Conclusion: ACTH deficiency may be a common manifestation in patients with PGM1 deficiency having recurrent hypoglycemia.
