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. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/2078241550 / rank | |||||||||||||||
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CID11:5C56.32 | |||||||||||||||
| Property / CURIE: CID11:5C56.32 / rank | |||||||||||||||
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dki-india-5C56.32 | |||||||||||||||
| Property / Canary Token: dki-india-5C56.32 / rank | |||||||||||||||
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| Property / Verification Status: Concluído / rank | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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| Property / Linked ICD 10: E76.2 / rank | |||||||||||||||
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Latest 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. |
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CID11:5C56.32
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dki-india-5C56.32
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Concluído
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13 August 2026
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