title: Metachromatic leukodystrophy in the habbanite Jews: high frequency in a genetic isolate and screening for heterozygotes.
abstract: A very high incidence of late infantile metachromatic leukodystrophy (MLD) (1/75 live births) was found in the Jewish Habbanite community which constitutes a genetic isolate of about 1,000-1,200 individuals. Screening in this population for aryl sulfatase A (ASA) levels in married adults revealed a carrier frequency for MLD of 17% and identified six couples of whom both partners were heterozygotes (6% of screened couples). In three pregnancies of these couples, prenatal diagnosis for the detection of ASA in the fetus was performed.
mesh_terms: D000328:Adult; D002553:Cerebroside-Sulfatase / Q000172:deficiency*; D002648:Child; D003241:Consanguinity; D005260:Female; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D006801:Humans; D007557:Israel; D007585:Jews; D007966:Leukodystrophy, Metachromatic / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D013429:Sulfatases / Q000172:deficiency*; D015006:Yemen / Q000208:ethnology
chemical_list: D013429:Sulfatases; D002553:Cerebroside-Sulfatase