METACHROMATIC LEUKODYSTROPHY WITHOUT ARYLSULFATASE A DEFICIENCY
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چکیده
منابع مشابه
Metachromatic leukodystrophy: arylsulfatase-A deficiency in skin fibroblast cultures.
Fibroblasts cultured from the skin of a patient with metachromatic leukodystrophy have been found to manifest the biochemical defect of this inborn error of metabolism, a deficiency of arylsulfatase A. Diseased cells had less than five per cent of normal arylsulfatase-A activity, while activities of other lysosomal enzymes-including arylsulfatase B, beta-galactosidase, beta-glucuronidase, and b...
متن کاملClinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency.
OBJECTIVE To determine the clinical symptoms in adult metachromatic leukodystrophy and in adult pseudodeficiency for arylsulfatase A. DESIGN Case series. SETTING University hospital. PATIENTS Twenty-five adult patients with very low arylsulfatase A activity. RESULTS In 13 patients, a diagnosis of adult metachromatic leukodystrophy was made. The main symptoms were dementia, behavioral ab...
متن کاملPseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy.
Metachromatic leukodystrophy is a hereditary neurodegenerative disorder in man associated with deficient arylsulfatase-A activity (aryl-sulfate sulfohydrolase, EC 3.1.6.1). The same enzyme deficiency has been noted in clinically normal individuals, a condition known as pseudo arylsulfatase-A deficiency. With a nonselective method, somatic cell hybrids were obtained from cultured fibroblasts of ...
متن کاملComplementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts.
Metachromatic leukodystrophy and multiple sulfatase deficiency disorder are severe neurodegenerative diseases inherited as separate autosomal recessive traits. Arylsulfatase A (aryl-sulfate sulfohydrolase, EC 3.1.6.1) activity is deficient in both diseases but in multiple sulfatase deficiency disorder, activities of arylsulfatases B and C and other sulfatases are also reported to be reduced. So...
متن کاملA novel mutation in the arylsulfatase A gene associated with adult-onset metachromatic leukodystrophy without clinical evidence of neuropathy.
! 45 and 47, respectively. His parents were not consanguineous and there is no previous history of similar neurological diseases in the family. Examination of the optic fundi showed no abnormal findings. He had no numbness, paresthesia, muscle weakness, muscle atrophy, abnormal involuntary movements or ataxia. Superficial sensation was normal, but vibratory sense was very slightly impaired in t...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1979
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197910000-00021