Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches
نویسندگان
چکیده
منابع مشابه
Developing therapeutic approaches for metachromatic leukodystrophy
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by the deficiency of arylsulfatase A (ASA), resulting in impaired degradation of sulfatide, an essential sphingolipid of myelin. The clinical manifestations of MLD are characterized by progressive demyelination and subsequent neurological symptoms resulting in severe debilitation. The availability of therapeu...
متن کاملUrine sulfatides and the diagnosis of metachromatic leukodystrophy.
A deficiency of the lysosomal enzyme arylsulfatase A (ASA) causes the lysosomal storage disorder metachromatic leukodystrophy (MLD). The diagnosis of MLD is straightforward in cases with deficient leukocyte or fibroblast ASA activity and a typical clinical history. However, several atypical and late-onset forms of MLD have been described. The diagnosis is also complicated by the high frequency ...
متن کاملMR of childhood metachromatic leukodystrophy.
PURPOSE To investigate the MR findings of childhood metachromatic leukodystrophy (MLD). METHODS Nine MR imaging studies in seven children (five girls and two boys, 10 to 32 months old) with MLD were evaluated retrospectively for the extent and progression of white matter abnormalities and the presence of contrast enhancement. RESULTS All seven cases showed symmetric, confluent high signal i...
متن کاملMetachromatic Leukodystrophy Clinical, Biological and Therapeutic Aspects
Scholz’s disease or metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by a deficiency in arylsulfatase A (ARSA: EC 3.1.6.8). This enzyme is responsible for the degradation of sulfatides commonly called cerebroside-3-sulfate or 3-O sulfogalactosylceramide in galactocerebroside and sulfate. The success of hydrolysis of these sphingolipids by ARSA necessarily depends on the ...
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ژورنال
عنوان ژورنال: Frontiers in Medicine
سال: 2020
ISSN: 2296-858X
DOI: 10.3389/fmed.2020.576221