Literature DB >> 229342

Anderson-Fabry disease: rapid detection of carriers by hair bulb analysis.

A Ejiofor, D Robinson, D Wise, M Hamers, J M Tager.   

Abstract

A rapid and simple method is described for the identification of the carrier state in angiokeratoma corporis diffusum. The alpha-galactosidase (alpha-D-galactoside galactohydrolase, E.C.3.2.1.22) activities in individual hair roots are measured and compared with those of N-acetyl-beta-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.

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Year:  1978        PMID： 229342     DOI： 10.1007/bf01801848

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  11 in total

Review 1.  Diagnosis of inherited enzymatic deficiencies with tears: Fabry disease.

Authors:  M A Del Monte; D L Johnson; E Cotlier; R J Desnick
Journal:  Birth Defects Orig Artic Ser       Date:  1976

2.  Angiokeratoma corporis diffusum. A clinical study of eight affected families.

Authors:  D WISE; H J WALLACE; E H JELLINEK
Journal:  Q J Med       Date:  1962-04

3.  Histochemical and biochemical studies of urinary lipids in metachromatic leukodystrophy and Fabry's disease.

Authors:  H Pilz; D Müller; I Linke
Journal:  J Lab Clin Med       Date:  1973-01

4.  Glucose-6 phosphate dehydrogenase mosaicism: utilization as a tracer in the study of the development of hair root cells.

Authors:  S M Gartler; E Gandini; G Angioni; N Argiolas
Journal:  Ann Hum Genet       Date:  1969-10       Impact factor: 1.670

5.  Genetic aspects of angiokeratoma corporis diffusum.

Authors:  A W Johnston; B J Warland; S D Weeller
Journal:  Ann Hum Genet       Date:  1966-07       Impact factor: 1.670

6.  The use of conjunctival biopsy and enzyme analysis in tears for the diagnosis of homozygotes and heterozygotes with Fabry disease.

Authors:  J Libert; M Tondeur; F Van Hoof
Journal:  Birth Defects Orig Artic Ser       Date:  1976

7.  An example of rapid prenatal diagnosis of Fabry's disease using microtechniques.

Authors:  H Galjaard; M F Niermeijer; N Hahnemann; J Mohr; S A Sorensen
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

8.  Fabry's disease: heterozygote detection by hair root analysis.

Authors:  T Grimm; T F Wienker; H H Ropers
Journal:  Hum Genet       Date:  1976-06-29       Impact factor: 4.132

9.  Lesch-Nyhan syndrome: rapid detection of heterozygotes by use of hair follicles.

Authors:  S M Gartler; R C Scott; J L Goldstein; B Campbell
Journal:  Science       Date:  1971-05-07       Impact factor: 47.728

10.  Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles.

Authors:  M W Spence; A L Goldbloom; J K Burgess; D D'entremont; B A Ripley; K L Weldon
Journal:  J Med Genet       Date:  1977-04       Impact factor: 6.318
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  3 in total

1.  Hair root diagnosis of Fabry's disease.

Authors:  D Robinson; J M Tager
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

2.  Fibroblast alpha-galactosidase A activity for identification of Fabry's disease heterozygotes.

Authors:  A H Fensom; P F Benson; A R Grant; L Jacobs
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

3.  Sequence variations in the first exon of alpha-galactosidase A.

Authors:  J P Davies; B G Winchester; S Malcolm
Journal:  J Med Genet       Date:  1993-08       Impact factor: 6.318
  3 in total

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