title: Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype.
abstract: We report 3 siblings (1 male and 2 female) recently diagnosed with congenital disorder of glycosylation type Ia (CDG-Ia) in their mid-20s. They experience mild mental retardation but manage to function independently in society. Their professions are library assistant, professional artistic painter and secretarial work. All three siblings have cerebellar hypoplasia and ataxia, but are able to ambulate easily. Two of the siblings have required strabismus surgical repairs. All have antithrombin III deficiency, osteoporosis, and mild dysmorphic features. Hypergonadotrophic hypogonadism was a feature of the two female siblings. A type 1 sialotransferrin pattern and phosphomannomutase (PMM) deficiency have been demonstrated. They are compound heterozygotes for R141H and L32R mutations in the PMM2 gene. While there is clinical heterogeneity in CDG-Ia, we believe that our patients are among the mildest of intellectually affected CDG-Ia patients reported to date.
authors: Department of Metabolic Medicine, The Royal Children's Hospital, Brisbane, Queensland, Australia.
authors: D
authors: D
authors: Coman
authors: J
authors: J
authors: McGill
authors: R
authors: R
authors: MacDonald
authors: D
authors: D
authors: Morris
authors: S
authors: S
authors: Klingberg
authors: J
authors: J
authors: Jaeken
authors: D
authors: D
authors: Appleton
mesh_terms: D000328:Adult; D001120:Arginine / Q000235:genetics; D001259:Ataxia / Q000209:etiology / Q000235:genetics; D002526:Cerebellar Diseases / Q000209:etiology; D018981:Congenital Disorders of Glycosylation / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D005260:Female; D006639:Histidine / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics; D008239:Lysine / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics; D010024:Osteoporosis / Q000209:etiology / Q000235:genetics; D010641:Phenotype; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency* / Q000235:genetics*; D035781:Siblings
chemical_list: D006639:Histidine; D001120:Arginine; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase; C519582:phosphomannomutase 2, human; D008239:Lysine