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Carbohydrate deficient glycoprotein syndrome type I: a cause of cerebellar vermis hypoplasia
S Worthington1, S Arbuckle, P Nelson
1Department of Clinical Genetics, New Children's Hospital, Parramatta, New South Wales, Australia.
Insights
This study reports the first Australian case of carbohydrate-deficient glycoprotein syndrome Type I (CDG I). Early diagnosis is crucial for managing this genetic disorder and its neurological implications.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Carbohydrate-deficient glycoprotein syndrome Type I (CDG I) is a rare inherited metabolic disorder.
- It results from defects in the synthesis of complex carbohydrates attached to proteins.
- CDG I can lead to significant neurological and developmental abnormalities.
Observation:
- Presents the first confirmed case of CDG I in Australia.
- An infant exhibited clinical findings suggestive of CDG I, including cerebellar hypoplasia.
- Biochemical investigations revealed characteristic abnormalities.
Findings:
- Enzymatic confirmation of CDG I was achieved through an abnormal transferrin isoform pattern.
- Reduced phosphomannomutase levels were identified in skin fibroblasts.
- The case highlights CDG I as a cause of pediatric cerebellar hypoplasia.
Implications:
- Emphasizes the need for increased pediatrician awareness of CDG I in Australia.
- Early diagnosis is critical for understanding prognostic and genetic implications.
- Suggests CDG I may be underdiagnosed in the Australian pediatric population.
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.