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Presymptomatic diagnosis: Metachromatic eukodystrophy or pseudo arylsulphatase a deficiency?
Author(s) -
Kihara H.,
Fluharty A. L.,
Ng W. G.,
Leider W.
Publication year - 1982
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02179145
Subject(s) - metachromatic leukodystrophy , proband , sibling , arylsulfatase a , medicine , endocrinology , psychology , pathology , biology , genetics , mutation , developmental psychology , gene
Diagnosis of metachromatic leukodystrophy (MLD) was established in the proband at age 27 months. An examination of the family arylsulphatase A profile revealed that the father and younger sibling, age 2 months, had very low enzyme activities like the proband. The father, in all likelihood, had the pseudo arylsulphatase A deficiency trait, but the sibling could be either pseudodeficient or affected with MLD. The fibroblast cerebroside sulphate loading test confirmed that the father had pseudo arylsulphatase A deficiency. The test also indicated that the sibling was affected with MLD. This was confirmed by clinical evidence of neurological degeneration by 18 months.