Mucopolysaccharidosis type 4 (Q40080): Difference between revisions
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A mucopolissacaridose tipo IV (tipo 4) é uma doença de depósito lisossomal pertencente ao grupo das mucopolissacaridoses, caracterizada por displasia espondilo-epifio-metafisária. Existem duas formas clinicamente indistinguíveis, A e B. A deficiência em uma das duas enzimas necessárias para a degradação do sulfato de queratano é responsável pelos subtipos: sulfatase N-acetilgalactosamina-6-sulfato no tipo 4A e beta-D-galactosidase no tipo 4B. | |||
| description / en | description / en | ||
Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two clinically indistinguishable forms, A and B. A deficiency in one of the two enzymes required for the degradation of keratan sulfate (KS) is responsible for the MPS IV subtypes: N-acetylgalactosamine-6-sulfate sulfatase in MPS IVA, and beta-D-galactosidase in MPS IVB. | |||
Revision as of 05:44, 13 August 2026
Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two clinically indistinguishable forms, A and B. A deficiency in one of the two enzymes required for the degradation of keratan sulfate (KS) is responsible for the MPS IV subtypes: N-acetylgalactosamine-6-sulfate sulfatase in MPS IVA, and beta-D-galactosidase in MPS IVB.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C56.32 |
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| English | Mucopolysaccharidosis type 4 |
Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two clinically indistinguishable forms, A and B. A deficiency in one of the two enzymes required for the degradation of keratan sulfate (KS) is responsible for the MPS IV subtypes: N-acetylgalactosamine-6-sulfate sulfatase in MPS IVA, and beta-D-galactosidase in MPS IVB. |
