Placental steroid deficiency: association with arylsulfatase A deficiency.
A family with an obstetric history consistent with placental sulfatase deficiency has X-linked ichthyosis. Steroid sulfatase deficiency was confirmed in placenta, leukocytes, and cultured skin fibroblasts of affected males; arylsulfatase A diminution was also observed in these tissues of both affected males and 2 generations of related females. No symptoms of metachromatic leukodystrophy are present in any family members. In this family, placental sulfatase deficiency, and arylsulfatase A pseudodeficiency are nonallelic.
D000483:Alleles; D002553:Cerebroside-Sulfatase / Q000172:deficiency*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D008040:Genetic Linkage; D006801:Humans; D007057:Ichthyosis / Q000201:enzymology / Q000235:genetics*; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D010375:Pedigree; D010920:Placenta / Q000201:enzymology*; D011247:Pregnancy; D043266:Steryl-Sulfatase; D013429:Sulfatases / Q000172:deficiency*; D014960:X Chromosome
D013429:Sulfatases; D043266:Steryl-Sulfatase; D002553:Cerebroside-Sulfatase