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Aspartylglucosaminuria: Deficiency of aspartylglucosaminidase in cultured fibroblasts of patients and their heterozygous parents
Author(s) -
Aula P.,
Näntöu V.,
Laipio M.L.,
Autio S.
Publication year - 1973
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1973.tb01161.x
Subject(s) - heterozygote advantage , enzyme , endocrinology , glycoprotein , medicine , biology , hydrolase , enzyme assay , fibroblast , microbiology and biotechnology , biochemistry , cell culture , genetics , genotype , gene
Aspartylglucosaminuria (AGU) is a genetic lysosomal storage disorder which probably affects the metabolism of glycoproteins. Earlier studies have shown a deficiency of a lysosomal hydrolase, N‐aspartyl‐β‐glucosaminidase in the serum and seminal fluid, as well as in the brain and liver tissues of the patients. The present studies demonstrated a very low activity of N‐aspartyl‐β‐glucosaminidase in cultured skin fibroblasts from AGU patients. The fibroblasts of the parents of the patients had a moderately low enzyme activity when conipared with control cultures. Thus, demonstration of the enzyme defect in fibroblasts offers possibilities both for detection of heterozygotes and for prenatal diagnosis of AGU.