A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report KU Leuven
BACKGROUND: Congenital Disorders of Glycosylation (CDG) are a large group of inborn errors of metabolism with more than 140 different CDG types reported to date (1). The first characterized, PMM2-CDG, with an autosomal recessive transmission, is also the most frequent. The PMM2 gene encodes a phosphomannomutase. Here, a novel genetic variation causing PMM2-CDG is reported. CASE PRESENTATION: We report the case of a French child, from healthy ...