title: PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  The timely diagnosis of this disorder is particularly important, because d-galactose treatment can improve the latter symptoms.
authors.affiliation: a Division of Paediatric Endocrinology , University Hospital Brussels , Brussels , Belgium.
authors.forename: Renate
authors.initials: R
authors.lastname: Zeevaert
authors.affiliation: b DECCP, Department of Paediatrics , Centre Hospitalier Luxembourg , Luxembourg.
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Scalais
authors.affiliation: a Division of Paediatric Endocrinology , University Hospital Brussels , Brussels , Belgium.
authors.forename: Laura
authors.initials: L
authors.lastname: Muino Mosquera
authors.affiliation: c Division of Paediatric Neurology and Metabolism , University Hospital Brussels , Brussels , Belgium.
authors.forename: Linda
authors.initials: L
authors.lastname: De Meirleir
authors.affiliation: b DECCP, Department of Paediatrics , Centre Hospitalier Luxembourg , Luxembourg.
authors.forename: Carine
authors.initials: C
authors.lastname: De Beaufort
authors.affiliation: b DECCP, Department of Paediatrics , Centre Hospitalier Luxembourg , Luxembourg.
authors.forename: Michael
authors.initials: M
authors.lastname: Witsch
authors.affiliation: d Department of Paediatrics , Center for Metabolic Disease, University Hospital Leuven , Leuven , Belgium.
authors.forename: Jaak
authors.initials: J
authors.lastname: Jaeken
authors.affiliation: a Division of Paediatric Endocrinology , University Hospital Brussels , Brussels , Belgium.|e Division of Paediatric Endocrinology , University Hospital Ghent , Ghent , Belgium.
authors.forename: Jean
authors.initials: J
authors.lastname: De Schepper
mesh_terms: D003952:Diagnostic Imaging; D005183:Failure to Thrive / Q000097:blood / Q000150:complications*; D006008:Glycogen Storage Disease / Q000000981:diagnostic imaging* / Q000201:enzymology / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D007334:Insulin-Like Growth Factor I / Q000378:metabolism*; D008297:Male; D010733:Phosphoglucomutase / Q000097:blood / Q000172:deficiency*
chemical_list: D007334:Insulin-Like Growth Factor I; D010733:Phosphoglucomutase
keywords: CDG; Glycosylation; Growth failure; Hypoglycaemia; PGM1