Krabbes&; disease is due to deficiency of
Krabbe's DiseaseAn inherited disorder of lipid metabolism, a lipid storage disease (lipidosis)Enzyme deficiency: Galactocerebrosidase (bbb-galactosidase). The enzyme normally catalyzes the hydrolysis of galactocerebrosides and it splits the linkage between ceramide and galactoseNature of lipid accumulating: Galactosylceramide Clinical manifestations:Severe mental retardation in infantsTotal absence of myelin in central nervous system Globoid bodies found in white matter of brain. Note: Galactocerebroside is an impoant component of myelin Diagnosis: Depends on the determination of galactocerebrosidase activity in leucocytes and cultured skin fibroblasts. Prognosis: Fatal.Ref: Textbook of Medical Biochemistry, Eighth Edition, Dr (Brig) MN Chatterjea, page no: 62
Sphingomyelinase
Beta galactocerebrosidase
Hexosaminidase
Arylsulfatase
Metabolism of lipid