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Anderson‐fabry disease: Rapid detection of carriers by hair bulb analysis
Author(s) -
Ejiofor A.,
Robinson D.,
Wise D.,
Hamers M.,
Tager J. M.
Publication year - 1978
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/bf01801848
Subject(s) - angiokeratoma , fabry disease , alpha galactosidase , enzyme , biology , endocrinology , medicine , disease , biochemistry , anatomy
A rapid and simple method is described for the identification of the carrier state in angiokeratoma corporis diffusum. The α‐galactosidase (α‐D‐galactoside galactohydrolase, E.C.3.2.1.22) activities in individual hair roots are measured and compared with those of N ‐acetyl‐ β ‐hexosaminidase (E.C.3.2.1.30), another lysosomal enzyme that is not affected. The cellular mosaicism typical of females heterozygous for X‐linked disorders is revealed by the presence of normal, affected and partially affected hair roots. Normal individuals show no affected roots, while males hemizygous for the trait have no hair roots with enzyme activities in the normal range.