Diagnosis of Pseudo-Arylsulfatase A Deficiency with Electrophoretic Techniques

Chang, Patricia L.; Rosa, N. E.; Varey, Peter; Kihara, Hayato; Kolodny, Edwin H.; Davidson, Ronald G.

doi:10.1203/00006450-198410000-00027

Cited by 13 publications

(2 citation statements)

References 4 publications

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“…Electrophoretic separation and analysis of ARS isozymes were performed with cellulose acetate electrophoresis according to Rattazzi et al [1973] and Chang et al [1984]. Urinary sulfatide analyses were performed on random samples of urine according to Strasberg et al [1985].…”

Section: Biochemical Studiesmentioning

confidence: 99%

Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy

1989

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In a child with enzymatically and histopathologically proven metachromatic leukodystrophy (MLD), the disease pursued a course typical of juvenile MLD characterized by neurological degeneration beginning at age 9 years and ending in death at age 18. A younger brother of the patient was found to have profound deficiency of arylsulfatase A in leukocytes and to excrete five- to 20-fold greater-than-normal amounts of sulfatide in the urine. He was completely free of symptoms attributable to MLD until age 16 when he developed acute cholecystitis caused by sulfatide accumulation in the gallbladder. Results of detailed neurological examination at age 21 years were normal; formal psychometric assessment showed a full-scale IQ of 105 (Wechsler). Studies on cultured skin fibroblasts from the brother showed defects in arylsulfatase A activity, measured with the use of synthetic and natural substrates, and in radiolabeled sulfatide turnover. Cellulose acetate gel electrophoresis of fibroblast extracts from the patient showed no detectable arylsulfatase A isozyme under conditions that clearly distinguished pseudo-arylsulfatase A deficiency from classical MLD. Biochemically, the patient was indistinguishable from patients with classical MLD; on the other hand, his clinical course is dramatically more benign than that of his sister who was affected with severe MLD.

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Section: Biochemical Studiesmentioning

confidence: 99%

Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy

1989

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“…In contrast, under similar conditions, MLD cells accumulated only 15-46070 of the normal extracellular level of ARA molecules [11]. In addition to the relatively greater stability of the mutant ARA molecules in PD, the 5-10070 of residual ARA activity in PD cells demonstrated catalytic activity towards both artificial [12] and natural substrates for ARA [13]. In contrast, the residual activity in MLD cells did not possess similar activity.…”

Section: Discussionmentioning

confidence: 99%

Pseudo arylsulfatase A deficiency Biosynthesis of an abnormal arylsulfatase A

Ameen

Chang

1987

FEBS Letters

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Pseudo arylsulfatase A deficiency, an asymptomatic condition, and metachromatic leukodystrophy, a severe neurodegenerative disease, are both associated with profound reductions of arylsulfatase A activity in man. We now report that with metabolic labelling, cultured pseudo deficient cells synthesized about 20% of the normal amount of arylsulfatase A at a reduced rate of apparent synthesis and increased rate of degradation. However, in the presence of ammonium chloride which stimulated secretion of lysosomal enzymes, these cells synthesized about 80% of the normal amount of enzyme protein. Hence, the defect in pseudo arylsulfatase A deficiency is associated with labile arylsulfatase A molecules which can be stabilized if they are diverted from intracellular storage.

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