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Prenatal diagnosis of pseudo arylsulphatase a deficiency
Author(s) -
Kihara Hayato,
Fluharty Aryan L.,
Tsay Katherine K.,
Bachman Ronald P.,
Stephens John D.,
Ng Won G.
Publication year - 1983
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970030106
Subject(s) - metachromatic leukodystrophy , amniotic fluid , fetus , urine , pregnancy , prenatal diagnosis , medicine , endocrinology , cerebroside , arylsulfatase a , physiology , andrology , chemistry , biology , pathology , biochemistry , genetics
Prenatal diagnosis was performed on a pregnancy at risk for metachromatic leukodystrophy (MLD) in a family with the pseudo arylsulphatase A deficiency trait. Extracts of cultured amniotic fluid cells were deficient in arylsulphatase A indicating that the fetus was either affected with MLD or had the benign pseudodeficiency trait. In the cerebroside sulphate loading test, the at risk cells hydrolysed sulphatide like control cultured amniotic fluid cells implying that the fetus had pseudodeficiency. The pregnancy was carried to term and a male child was delivered. Placenta, urine and fibroblasts had very low activities of arysulphatase A. However, no sulphatide could be detected in urine and growing fibroblasts responded normally in the cerebroside sulphate loading test, suggesting pseudodeficiency. At 29 months, the infant is healthy and shows no stigmata of MLD. The prediction based on the results of the cerebroside sulphate loading test on cultured amniotic fluid cells appeared to be borne out.