Carrier detection in Sanfilippo A syndrome
1Department of Pathology, British Columbia Children's Hospital, Vancouver, Canada.
Clinical Genetics
|June 1, 1988
Summary
Researchers identified reduced heparan N-sulfatase enzyme levels in individuals with Sanfilippo A syndrome. This finding aids in diagnosing carriers of this genetic disorder.
Area of Science:
- Biochemistry
- Genetics
- Enzymology
Background:
- Sanfilippo A syndrome is a rare genetic disorder.
- It is caused by a deficiency in the enzyme heparan N-sulfatase.
- Early diagnosis is crucial for management.
Purpose of the Study:
- To assess heparan N-sulfatase levels in suspected carriers of Sanfilippo A syndrome.
- To establish a diagnostic method for identifying heterozygotes.
Main Methods:
- Leukocytes and fibroblasts were collected from individuals.
- Heparan N-sulfatase activity was measured using a modified Hall et al. (1978) assay.
- Enzyme levels were compared to normal control values.
Main Results:
- Obligate heterozygotes for Sanfilippo A syndrome exhibited significantly decreased heparan N-sulfatase levels.
- These reduced levels did not overlap with normal control values.
- Five additional family members with decreased enzyme activity were identified as presumed heterozygotes.
Conclusions:
- The modified assay effectively detects reduced heparan N-sulfatase levels in Sanfilippo A syndrome heterozygotes.
- This method can aid in the identification of carriers for genetic counseling and family planning.
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