Article
Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease.
American journal of human genetics - 1 Mar 1993
Penzien J M, Kappler J, Herschkowitz N, Schuknecht B, Leinekugel P, Propping P, Tønnesen T, Lou H, Moser H, Zierz S
Abstract excerpt
Several allelic mutations at the arylsulfatase A (ASA) locus cause substantial deficiencies of this lysosomal enzyme. Depending on the genetically determined degree of the deficiency, the clinical outcome may be very different--either metachromatic leukodystrophy (MLD), a lethal lysosomal storage disorder affecting the nervous system, or, more frequently, the so-called pseudodeficiency (PD), which has no apparent...
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