Premium
AN UNUSUAL FORM OF ARYLSULFATASE A DEFICIENCY COMBINED WITH SULFATIDE‐EXCRETION AND A NORMAL SULFATIDE‐LOADING
Author(s) -
TØNNESEN T.,
ANDERSEN M. SCHULTZ,
BURKART T.,
CHRISTOMANOU H.,
NIELSEN K. BRØNDUM,
WIESMANN U. N.
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.tb09826.x
Subject(s) - medicine , excretion , arylsulfatase , arylsulfatase a , endocrinology , physiology , pediatrics , biochemistry , enzyme , pathology , metachromatic leukodystrophy , biology
. A 7‐year‐old girl who showed retarded psychomotor development and generalized hypotonia without any signs of progression is described. Marked deficiency of arylsulfatase A activity in leukocytes and fibroblasts was observed. Both parents showed activity in cultured fibroblasts within the heterozygote‐normal range. Cerebroside‐sulfatase activity was absent in cultured fibroblasts from the patient. Urinary analyses revealed a pathologically increased sulfatide excretion. Normal sensory nerve conduction velocity was found, but no metachromatic material was found in a sural nerve nerve biopsy. Loading of the patient's fibroblasts with sulfatides resulted in normal uptake and normal degradation.