Late onset GM2gangliosidosis: an α‐locus genetic compound with near normal hexosaminidase activity
作者:
Joel Charrow,
Koji Inui,
David A. Wenger,
期刊:
Clinical Genetics
(WILEY Available online 1985)
卷期:
Volume 27,
issue 1
页码: 78-84
ISSN:0009-9163
年代: 1985
DOI:10.1111/j.1399-0004.1985.tb00188.x
出版商: Blackwell Publishing Ltd
关键词: Allelic compound;GM2gangliosidosis;β‐hexosaminidase A deficiency;variant Tay‐Sachs disease
数据来源: WILEY
摘要:
A non‐Jewish child with late onset GM2gangliosidosis is described. Tissues from the patient had near normal hexosaminidase A (hex A) activity using 4‐methylumbelliferyl‐2‐acetamido‐2‐deoxy‐β‐D‐glucopyranoside (MU‐glcNAc) as substrate, and deficient activity when assayed with the 6‐sulfate derivative of MU‐glcNAc (MU‐glcNAcS) or GM2in the presence of activator. We present evidence that this patient is a genetic compound for different oc‐subunit mutations. The father's tissues have hex A activity in the heterozygote range when assayed with MU‐glcNAcS, but normal activity using MU‐glcNAc; the mother's tissues have activities toward both substrates in the heterozygote range. These results emphasize the pitfalls of using only MU‐glcNAc for the diagnosis of unu
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