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METACHROMATIC LEUKODYSTROPHY AND PSEUDOARYLSULFATASE A DEFICIENCY IN A DANISH FAMILY
Author(s) -
TØNNESEN T.,
BRO P. V.,
NIELSEN K. BRØNDUM,
LYKKELUND C.
Publication year - 1983
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1983.tb09692.x
Subject(s) - metachromatic leukodystrophy , arylsulfatase a , medicine , leukodystrophy , urine , danish , metachromasia , amniotic fluid , endocrinology , physiology , pathology , pregnancy , fetus , genetics , biology , disease , staining , linguistics , philosophy
. A child with a diagnosis of lateinfantile metachromatic leukodystrophy (MLD), and a normal father with low arylsulfatase A (ASA) activity in leucocytes and cultured fibroblasts is described. The child had a pathologically increased amount of sulfatides in the urine, whereas no sulfatides could be found in the father's urine. Sulfatide‐loading of the child's cultured fibroblasts showed an accumulation of sulfatides, whereas the fibroblasts from the father had a marginally decreased sulfatide turnover. It is thus possible to discriminate between these two forms of low ASA activity in this family, and to ensure a correct diagnosis should the amniotic fluid cells show a low ASA activity in future pregnancles.