Prenatal diagnosis of pseudo arylsulphatase a deficiency

Kihara, Hayato; Fluharty, Aryan L.; Tsay, Katherine K.; Bachman, Ronald; Stephens, John D.; Ng, W.

doi:10.1002/pd.1970030106

Cited by 13 publications

(2 citation statements)

References 15 publications

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“…The biochemical diagnosis of this condition is generally accomplished by assay of the enzyme in white blood cells, and/or by an increased urinary excretion of sulfatides. The age of onset of the disease has been correlated with the level of ASA residual activity, as determined by sulfatide loading test (Kihara et al, 1983). Earlier studies have identified isolated cases of asymptomatic individuals with low urinary, and/or leukocyte arylsulfatase activity in the absence of increased urinary sulfatide, or any clinical manifestations of the disease (Butterworth et al, 1978;Lott et al, 1976).…”

Section: Biochemistry Of Mldmentioning

confidence: 99%

Arylsulfatase A (ASA) defect and psychiatric illness

Shah

1990

Molecular and Chemical Neuropathology

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The detection of homozygous (disease state) and heterozygous (carrier) forms of metachromatic leukodystrophy (MLD) and their prevalence among psychiatric individuals are reviewed. Levels of Arylsulfatase A (ASA) activity in peripheral leukocytes, mixed white cell populations, and lymphocytes are compared in normal and psychiatric patients. The prevalence of low levels of enzyme activity in psychiatric patients, and the implications of such levels with regard to the metabolic disease states and associated psychiatric illnesses are discussed. In addition, the use and reliability of leukocyte enzyme assay systems as a criteria for determining and distinguishing between the homozygous and heterozygous conditions are evaluated.

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Section: Biochemistry Of Mldmentioning

confidence: 99%

Arylsulfatase A (ASA) defect and psychiatric illness

Shah

1990

Molecular and Chemical Neuropathology

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“…Early symptoms include gait disturbance, mental regression and urinary incontinence. This has also been demonstrated in amniocytes and chorionic villi, allowing prenatal diagnosis of fetuses with MLD and P D , Kihara et al 1983, Kudoh & Wenger 1982. The rare adult form is characterized by dementia ;and slow-ly progressive neurological dysfunction (Kolodny & Moser 1983, DeSilva & Pearce 1973.…”

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confidence: 96%

Pseudodeficiency of arylsulfatase A: a counseling dilemma

Baldinger

Wenger

1987

Clinical Genetics

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Arylsulfdtase A (ASA) deficiency 11s the cause of early and late onset metachromatic leukodystrophy (MLD). Low ASA levels are detected in some healthy individuals who are pseudodeficient (PD). PD individuals can be distinguished, because PD fibroblasts hydrolyze "C-sulfatide at similar rates to normal fibroblasts. This has also been demonstrated in amniocytes and chorionic villi (CV). The genetic basis for PD is not clearly understood and is most likely heterogeneous with respect to allelic mutations of the ASA gene. I t is hypothesized that the PD phenotype can either be due to PD/PD or PD/MLD genotypes, only the latter representing a potential risk to offspring. We report an unusual family where two siblings, both carriers of the classic late infantile MLD allele, are married to unrelated PD individuals. One couple has two PD offspring; their "at risk" sitatus, due to the lack of an affected offspring is in question. The other couple terminated a fetus determined to be affected with a "MLD variant", most likely a compound heterozygote. Chutions prenatal counseling of PD families is essential. The population frequency of the PD phenotype is unknown. Received I S April. revised. accepied for publication 2.5 Augusi I986

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Probable metachromatic leukodystrophy/pseudodeficiency compound heterozygote at the arylsulfatase A locus with neurological and psychiatric symptomatology

et al. 1988

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Metachromatic leukodystrophy (MLD) is an autosomal recessive progressive demyelination disorder caused by the deficiency of arylsulfatase A (ASA). However, there exist individuals with low ASA activity without clinical symptoms. This state is described as ASA pseudodeficiency (PD). A number of patients with low ASA activity and various neuropsychiatric symptoms have been observed. It is controversial to what extent low ASA activity predisposes for neurological and/or psychiatric symptomatology. Therefore, persons with low ASA activity who were collected from a large-scale screening among neuropsychiatric patients and healthy controls are presently being extensively evaluated using biochemical, genetic, and clinical methods. Here we present a female patient, who had been first hospitalized with the diagnosis encephalomyelitis disseminata. Her ASA activity determined in fibroblast extracts is intermediate between adult MLD and PD. Sulfatide degradation in cultured fibroblasts is diminished. The subunit pattern obtained after SDS-polyacrylamide gel electrophoresis and immunoblotting was determined in the index patient and 2 sibs. It is compatible with a compound genotype ASA-/ASAp in the index case. It appears probable that in this patient low ASA activity leads to the accumulation of sulfatide and either causes the appearance of neuropsychiatric symptoms or at least contributes to the demyelination process.

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Prenatal diagnosis of pseudo arylsulphatase a deficiency

Cited by 13 publications

References 15 publications

Arylsulfatase A (ASA) defect and psychiatric illness

Arylsulfatase A (ASA) defect and psychiatric illness

Pseudodeficiency of arylsulfatase A: a counseling dilemma

Probable metachromatic leukodystrophy/pseudodeficiency compound heterozygote at the arylsulfatase A locus with neurological and psychiatric symptomatology

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