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Sanfilippo B disease in two related sibships. Biochemical studies in patients, parents and sibs
Author(s) -
Liem K. O.,
Giesberts M. A. H.,
Kamp J. J. P. van de,
Pelt J. F. van,
Hooghwinkel G. J. M.
Publication year - 1976
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.1399-0004.1976.tb00048.x
Subject(s) - heterozygote advantage , urine , excretion , glycosaminoglycan , disease , endocrinology , medicine , autosomal recessive inheritance , biology , genetics , biochemistry , allele , gene
In two related Sanfilippo B families, comprising 27 individuals, some biochemical parameters were studied. After detection of the patients, an attempt was made to distinguish between heterozygotes and normals. The excretion of glycosaminoglycans in the urine and N‐acetyl‐α‐D‐glucosaminidase activity in leukocytes and plasma were taken as parameters for the study. The determination of N‐acetyl‐α‐D‐glucosaminidase activity in plasma is considered to be the most suitable method for heterozygote detection.