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J Paediatr Child Health. 1997 Dec;33(6):531-4.

Carbohydrate deficient glycoprotein syndrome type I: a cause of cerebellar vermis hypoplasia.

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1
Department of Clinical Genetics, New Children's Hospital, Parramatta, New South Wales, Australia.

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.

[Indexed for MEDLINE]

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