Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families.

doi:10.1203/00006450-199606000-00022

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Article

Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families.

Pediatric research - 1 Jun 1996

Kleijer W J, Geilen G C, Janse H C, van Diggelen O P, Zhou X Y, Galjart N J, Galjaard H, d'Azzo A

Abstract excerpt

Deficiency of lysosomal protective protein/cathepsin A in humans is the primary cause of galactosialidosis, a lysosomal storage disease characterized by combined deficiency of beta-galactosidase and neuraminidase. We have investigated 20 galactosialidosis patients and nine of their obligate heter...

Topics

Amniotic Fluid
Carboxypeptidases
Carrier State
Cathepsin A
Cells, Cultured
Chorionic Villi
Female
Fibroblasts
Humans
Lysosomal Storage Diseases
Male
Neuraminidase
Phenotype
Skin
beta-Galactosidase

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