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Carbohydrate deficient glycoprotein syndrome type I: A cause of cerebellar vermis hypoplasia |
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| Authors: | S WORTHINGTON S ARBUCKLE P NELSON W CAREY A LIPSON E PAGAN |
| Affiliation: | Department of Clinical Genetics, New Children's Hospital, Parramatta, New South Wales, South Australia;Department of Pathology, New Children's Hospital, Parramatta, New South Wales, South Australia;Department of Chemical Pathology, Adelaide Women and Children's Hospital, South Australia;National Referral Laboratory, Adelaide Women and Children's Hospital, South Australia;Department of Neurology, New Children's Hospital, New South Wales, Australia |
| Abstract: | Abstract: To report the first case of carbohydrate deficient glycoprotein syndrome Type I (CDG I) that has been identified in Australia and confirmed enzymatically to raise the awareness of paediatricians with regard to CDG I and its manifestations, implications and diagnostic investigations. Clinical and autopsy findings of an infant with CDG I are presented. The diagnosis of CDG I was suggested by the clinical findings and biochemical abnormalities and was confirmed by showing an abnormal transferrin isoform pattern. Subsequent studies showed a reduced level of phosphomannomutase in skin fibroblasts. Carbohydrate-deficient glycoprotein syndrome I is one of the many causes of cerebellar hypoplasia. It is an important disorder to identify because of the prognostic and genetic implications and may be underdiagnosed in Australia. |
| Keywords: | carbohydrate-deficient glycoprotein syndrome cerebellum phosphotransferases syndrome transferrin |