A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia

“…A genotype-phenotype correlation is beginning to emerge 16,51 for some mildly affected CDG-Ia patients. However, our work also suggests that there is a high threshold for nonsymptomatic PMM deficiency and/or that other genes involved with glycosylation may contribute.…”

ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients

“…It was first reported in 1998 (Burda et al 1998;K€ orner et al 1998) and about 37 patients have been described (Imbach et al 1999Gr€ unewald et al 2000;Hanefeld et al 2000;Westphal et al 2000aWestphal et al , b, 2003de Lonlay et al 2001;Schollen et al 2002;Newell et al 2003;Sun et al 2005;Vuillaumier-Barrot 2005;Eklund et al 2006;Haeuptle and Hennet 2009;Al-Owain et al 2010). The clinical presentation is mainly characterized by feeding problems and a moderately pronounced neurological disorder with psychomotor retardation, hypotonia, epilepsy, and internal strabismus Newell et al 2003).…”

“…Table 1 summarizes clinical and molecular findings in ten ALG6-CDG patients reported since 1998. Twenty-one different mutations have been described but the majority of patients have the c.998C>T (p.A333V) mutation, either in a compound heterozygous or homozygous state (Imbach et al 1999Gr€ unewald et al 2000;Hanefeld et al 2000;Westphal et al 2000aWestphal et al , b, 2003de Lonlay et al 2001;Schollen et al 2002;Newell et al 2003;Sun et al 2005;Vuillaumier-Barrot 2005;Eklund et al 2006;Haeuptle and Hennet 2009;Al-Owain et al 2010). Haeuptle and Hennet (2009) reported that most of the mutations affect amino acids positioned within the 11 TM domains, which compromise the integrity of the protein structure and alter the properties responsible for the binding of dolichol-linked glycans.…”

A novel homozygous mutation in the mannose phosphate isomerase gene causing congenital disorder of glycation and hyperinsulinemic hypoglycemia in an infant

“…De Lonlay et al reported the clinical, biologic, and molecular analysis of 26 patients with CDG I, including two CDG Ib 8. The two patients with CDG Ib had severe liver disease, protein‐losing enteropathy, and hyperinsulinemic hypoglycemia and no neurologic involvement.…”