Globoid Cell Leukodystrophy: Deficiency of Lactosyl Ceramide Beta-Galactosidase
AUTOR(ES)
Wenger, David A.
RESUMO
Activity of lactosyl ceramide β-galactosidase (β-D-galactoside galactohydrolase, EC 3.2.1.23) was found to be extremely low in enzyme preparations from liver, brain, and cultured skin fibroblasts from patients with Krabbe's disease. Leukocytes from one set of parents had enzyme levels approximately half those measured in control leukocytes. The low activity observed for this galactolipid hydrolase is the fourth enzymatic deficiency noted for this genetic disease. Beta-galactosidase activity toward galactocerebroside, psychosine, and monogalactosyl diglyceride is also low in patients with Krabbe's disease. Other lysosomal enzymes measured were found to be in the normal range. This enzymatic defect may provide a better explanation for the pathological and chemical findings previously reported for this syndrome.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=388113Documentos Relacionados
- Krabbe's globoid cell leucodystrophy. Studies on galactosylceramide beta-galactosidase and non-specific beta-galactosidase of leucocytes, cultured skin fibroblasts, and amniotic fluid cells.
- Concentrated beta-galactosidase and cell permeabilization from Saccharomyces fragilis IZ 275 for beta-galactosidase activity in the hydrolysis of lactose
- Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.
- Genetic regulation: yeast mutants constitutive for beta-galactosidase activity have an increased level of beta-galactosidase messenger ribonucleic acid.
- Molecular basis of beta-galactosidase alpha-complementation.
