Abstract | OBJECTIVE: METHODS: RESULTS: Assays of arylsulfatase A activity had resulted in ambiguous results for MLD carrier identification. DNA analysis clearly identified two MLD mutations in the family, and an unsuspected arylsulfatase A pseudodeficiency. The DNA information immediately clarified the MLD risk for the family and confirmed that a newborn with low arylsulfatase A activity was unaffected. CONCLUSIONS: The overlap between activities for various combinations of MLD and pseudodeficiency alleles and the variability inherent in the assay of arylsulfatase A complicate the interpretation of activity levels in families at risk for MLD. Use of simple molecular biological tests for pseudodeficiency and the common MLD mutations in combination with the enzyme data can facilitate carrier identification and prenatal diagnosis.
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Authors | M B Coulter-Mackie, D A Applegarth, J Toone, H Vallance |
Journal | Clinical biochemistry
(Clin Biochem)
Vol. 30
Issue 1
Pg. 57-61
(Feb 1997)
ISSN: 0009-9120 [Print] United States |
PMID | 9056111
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Arylsulfatases
- Cerebroside-Sulfatase
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Topics |
- Alleles
- Arylsulfatases
(chemistry, deficiency, genetics, metabolism)
- Cell Line
- Cerebroside-Sulfatase
(chemistry, deficiency, genetics, metabolism)
- Child, Preschool
- Female
- Fibroblasts
(enzymology)
- Genetic Carrier Screening
- Humans
- Leukocytes
(enzymology)
- Leukodystrophy, Metachromatic
(diagnosis, enzymology, genetics)
- Male
- Pedigree
- Polymerase Chain Reaction
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