Renate Zeevaert1, Emmanuel Scalais2, Laura Muino Mosquera1, Linda De Meirleir3, Carine De Beaufort2, Michael Witsch2, Jaak Jaeken4, Jean De Schepper1,5. 1. a Division of Paediatric Endocrinology , University Hospital Brussels , Brussels , Belgium. 2. b DECCP, Department of Paediatrics , Centre Hospitalier Luxembourg , Luxembourg. 3. c Division of Paediatric Neurology and Metabolism , University Hospital Brussels , Brussels , Belgium. 4. d Department of Paediatrics , Center for Metabolic Disease, University Hospital Leuven , Leuven , Belgium. 5. e Division of Paediatric Endocrinology , University Hospital Ghent , Ghent , Belgium.
Abstract
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.
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.
Authors: Hossein Moravej; Ruqaiah Altassan; Jaak Jaeken; Gregory M Enns; Carolyn Ellaway; Shanti Balasubramaniam; Pascale De Lonlay; David Coman; Saadet Mercimek-Andrews; Peter Witters; Eva Morava Journal: JIMD Rep Date: 2019-11-25