Genotype Assignments in a Family with the Pseudo Arylsulfatase A Deficiency Trait without Metachromatic Leukodystrophy
作者:
HAYATO KIHARA,
WILLIAM MEEK,
ARVAN FLUHARTY,
期刊:
Pediatric Research
(OVID Available online 1984)
卷期:
Volume 18,
issue 10
页码: 1021-1022
ISSN:0031-3998
年代: 1984
出版商: OVID
数据来源: OVID
摘要:
SummaryTwo children in a family with five siblings were investigated because of low levels of fibroblast arylsulfatase A activity. Neither child had metachromatic leukodystrophy (MLD) and they were diagnosed as having benign pseudo arylsulfatase A deficiency trait (PD). Analysis of arylsulfatase A subunit profiles in fibroblasts provided data for genotype assignments for each family member. Father and mother were assigned an n/pd and n/mld phenotype, respectively. The low enzyme siblings were both assigned pd/mld; two of the three normal enzyme siblings were assigned an n/n phenotype and one an n/mld.AbbreviationsMLD, metachromatic leukodystrophyPD, pseudo arylsulfatase A deficiencyN, normal
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