Gastrointestinal and Other Clinical Manifestations in 17 Children With Congenital Disorders of Glycosylation Type Ia, Ib, and Ic

Abstract

The study confirms the heterogeneity of the clinical picture in children with CDG type Ia, Ib, and Ic. Children with protein-losing enteropathy should be tested for CDG. Protein-losing enteropathy can be caused, not only by CDG Ia and Ib, but also by type Ic. Children with congenital hepatic fibrosis should be tested for CDG, even in the absence of other symptoms. In CDG Ib, histologic analysis of the liver showed hamartomatous collections of bile ducts (Meyenburg complex).

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

“…Patient 1 showed a severe, earlyonset, neuro-gastrointestinal presentation comparable with previously described case studies (Westphal et al 2000b;Damen et al 2004;Newell et al 2003). The patient was compound heterozygous for the prevalent c.998C>T (p.A333V) missense mutation (originally described by Imbach et al 1999) and a novel c.1338dupA (p.V447SfsX44) frameshift mutation in the ALG6 gene.…”

“…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). A minority of patients show other symptoms, particularly intestinal (such as protein-losing enteropathy (PLE)) and liver involvement (Damen et al 2004). Striking biochemical features are unusually low serum cholesterol; blood coagulation factor XI and anticoagulation factors antithrombin, protein C, and protein S; as well as variable hypoalbuminemia; low serum LDL-cholesterol; and endocrinological abnormalities (K€ orner et al 1998;Gr€ unewald et al 2000;Hanefield et al 2000;Newell et al 2003;Sun et al 2005;Westphal et al 2000a, b).…”

rhIGF-1 Therapy for Growth Failure and IGF-1 Deficiency in Congenital Disorder of Glycosylation Ia (PMM2 Deficiency).

“…9,[15][16][17][18] Our patient with PMM2-CDG showed evidence of hepatopathy (elevated transaminases) and protein-losing enteropathy (low albumin), which normalized while on rhIGF-1 treatment. Since the typical course is normalization of the transaminases within the first decade of life, 9,15,16 it is unclear if IGF-1 therapy played a role through cell growth promotion, wound healing and barrier function in the intestine.…”

Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation

“…[2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17] The frequency and the prevalence of the disease are not known. The diagnosis has to be confirmed by mutation analysis of ALG6.…”