| Entry |
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| Name |
Galactosialidosis
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| Description |
Galactosialidosis is an autosomal recessive lysosomal storage disorder caused by cathepsin A deficiency and accompanied by combined deficiency of beta-galactosidase and alpha-neuraminidase.
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| Category |
Inherited metabolic disease; Lysosomal storage disease; Nervous system disease
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| Pathway |
| Lysosome | | Sphingolipid metabolism |
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| Gene |
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| Marker |
urinary sialic acid-rich oligosaccharides
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| Other DBs |
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| Reference |
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| Authors |
Darin N, Kyllerman M, Hard AL, Nordborg C, Mansson JE |
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| Title |
Juvenile galactosialidosis with attacks of neuropathic pain and absence of sialyloligosacchariduria. |
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| Journal |
Eur J Paediatr Neurol (2008) |
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| Reference |
|
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| Authors |
Neufeld EF |
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| Title |
Lysosomal storage diseases. |
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| Journal |
Annu Rev Biochem 60:257-80 (1991) |
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