PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure.

Acta clinica Belgica

PubMedID: 27351072

Zeevaert R, Scalais E, Muino Mosquera L, De Meirleir L, De Beaufort C, Witsch M, Jaeken J, De Schepper J. PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure. Acta Clin Belg. 2016;1-3.
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.