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...
Topics
- Adolescent
- Adult
- Alleles
- Brain
- Cerebroside-Sulfatase
- Child, Preschool
- Female
- Genetic Carrier Screening
- Genotype
- Humans
- Leukodystrophy, Metachromatic
- Magnetic Resonance Imaging
- Male
- Middle Aged