TY - JOUR
T1 - Hereditary heat-labile hexosaminidase B
T2 - A variant whose homozygotes synthesize a functional HEX A
AU - Navon, R.
AU - Kopel, R.
AU - Nutman, J.
AU - Frisch, A.
AU - Conzelmann, E.
AU - Sandhoff, K.
AU - Adam, A.
PY - 1985
Y1 - 1985
N2 - Homozygosity for a mutant allele at the β-chain locus of hexosaminidase (HEX), resulting in a variant of heat-labile HEX B, is reported for the first time in two healthy children. HEX activity in their sera, leukocytes, and cultured skin fibroblasts is severely deficient when measured on the synthetic substrate 4-MU-GLcNAc. However, their cultured skin fibroblasts synthesize and process both α and β chains of HEX, and their lymphoid cells hydrolyze normally the natural ganglioside G(M2). This mutation is, therefore, different from at least one of the β-chain mutations found in previously published families with heat-labile HEX B.
AB - Homozygosity for a mutant allele at the β-chain locus of hexosaminidase (HEX), resulting in a variant of heat-labile HEX B, is reported for the first time in two healthy children. HEX activity in their sera, leukocytes, and cultured skin fibroblasts is severely deficient when measured on the synthetic substrate 4-MU-GLcNAc. However, their cultured skin fibroblasts synthesize and process both α and β chains of HEX, and their lymphoid cells hydrolyze normally the natural ganglioside G(M2). This mutation is, therefore, different from at least one of the β-chain mutations found in previously published families with heat-labile HEX B.
UR - http://www.scopus.com/inward/record.url?scp=0021950357&partnerID=8YFLogxK
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C2 - 3156493
AN - SCOPUS:0021950357
SN - 0002-9297
VL - 37
SP - 138
EP - 146
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 1
ER -