hrp0082p2-d3-563 | Puberty and Neuroendocrinology (2) | ESPE2014
, Morava Eva
, Lefeber Dirk
, Claahsen-van der Grinten Hedi
, Korsch Eckhard
Introduction: Phosphoglucomutase 1 catalyzes the interconversion of glucose-6-phosphate and glucose-1-phosphate. Phosphoglucomutase 1 deficiency (PGM1-CDG), previously termed glycogenosis type XIV (OMIM 612934), is a rare variant of the congenital disorders of glycolysation (CDG), resulting in abnormal attachment and processing of protein linked N-glycans. We present a girl with PGM1-CDG and delayed pubertal development and review the endocrine findings of the few pat...