Abstract
Summary: Two children in a family with five siblings were investigated because of low levels of fibroblast arylsulfatase A activity. Neither child had metachromatic leukodystrophy (MLD) and they were diagnosed as having benign pseudo arylsulfatase A deficiency trait (PD). Analysis of arylsulfatase A subunit profiles in fibroblasts provided data for genotype assignments for each family member. Father and mother were assigned an n/pd and n/mld phenotype, respectively. The low enzyme siblings were both assigned pd/mld; two of the three normal enzyme siblings were assigned an n/n phenotype and one an n/mld.
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Kihara, H., Meek, W. & Fluharty, A. Genotype Assignments in a Family with the Pseudo Arylsulfatase A Deficiency Trait without Metachromatic Leukodystrophy. Pediatr Res 18, 1021–1022 (1984). https://doi.org/10.1203/00006450-198410000-00022
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DOI: https://doi.org/10.1203/00006450-198410000-00022
