Fabry's disease: biochemical and histochemical studies on hair roots for carrier detection

Abstract

A method of assay alpha-galactosidase and acid phosphatase activities in single hair roots is described. Enzyme histochemical studies show that the distribution of acid phosphatase in the human hair root matches that of alpha-galactosidase. Histochemically, the main activity is located in the upper part of the sheath near the orifice of the duct of the sebaceous gland. This is confirmed by enzyme assays on different parts of the hair root after dissection. The variation in the values found in individual hair roots is improved by relating alpha-galactosidase to acid phosphatase activities. Storage experiments indicate a remarkable stability of both alpha-galactosidase and acid phosphatase in human hair roots.

Noninvasive Test for Fragile X Syndrome, Using Hair Root Analysis

“…In the 1970s, human hair roots were frequently used for biomedical research, especially for diagnosis of inborn errors of metabolism. In particular, the detection of female carriers of X-linked disorders, such as Lesch-Nyhan syndrome, glucose-6-phosphate dehydrogenase deficiency, and Fabry disease, benefited from biochemical analysis of hair roots (Gartler et al 1969(Gartler et al , 1971Vermorken et al 1978).…”

Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone.

“…Determination of carrier status in V.1 may be aided by establishing a haplotype of the affected X chromosome from one of her affected uncles (IV. 4,6,9,12). Haplotype analysis would also be helpful in delineating the carrier status of IV.…”

Immunofluorescence imaging diagnosis of Fabry heterozygotes using confocal laser scanning microscopy

“…However, routine enzyme assays do not always distinguish between heterozygotes with high residual enzyme activity and normal homozygotes with low enzyme activity. Accordingly, enzyme assays in single hair roots (Grimm et al 1976, Spense et al 1977, Vermorken et al 1978 or assays after cell cloning or sorting (Romeo & Mignon 1970, Jongkind et al 1983 have been tried for identification of heterozygotes, but they are not routinely used in clinical laboratories at present.…”