Objective and importance: Phosphoglucomutase 1 (PGM1) deficiency, first described as a glycogenosis (type XIV) is also a congenital disorder of glycosylation (CDG). We want to illustrate the wide clinical spectrum of PGM1 deficiency and in particular the associated disturbance in glucose metabolism and the endocrine dysfunction. Treatment with d-galactose is experimental.
Case presentation: PGM1 deficiency was diagnosed in an 8-year-old boy, who was referred because of an unexplained complex syndrome, including recurrent hypoglycaemia and low IGF-1 mediated growth failure.
Conclusion: The timely diagnosis of this disorder is particularly important, because d-galactose treatment can improve the latter symptoms.
Keywords: CDG; Glycosylation; Growth failure; Hypoglycaemia; PGM1.