Mucosulfatidosis (Q67742): Difference between revisions
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A deficiência múltipla de sulfatases ou doença de Austin é uma doença de depósito lisossômico extremamente rara, caracterizada por uma deficiência de todas as sulfatases, sejam lisossômicas ou não. Clinicamente, a doença combina uma quimera de sinais clínicos com intensidades variáveis destas doenças - leucodistrofia metacromática (deficiência de arilsulfatase A), mucopolissacaridoses (tipos II, IIIA, IIID e VI são devidos a deficiências de sulfatase) e ictiose ligada ao X (deficiência de esteroide-sulfatase). | |||
| description / en | description / en | ||
Multiple sulfatase deficiency (MSD) or Austin's disease is an extremely rare lysosomal storage disease characterised by a deficiency of all sulfatases whether lysosomal or not. Clinically, the disease combines variable proportions of clinical signs of metachromatic leukodystrophy (arylsulfatase A deficiency), mucopolysaccharidoses (types II, IIIA, IIID and VI are due to sulfatase deficiencies) and X-linked ichthyosis (steroid-sulfatase deficiency). | |||
Revision as of 15:34, 14 August 2026
Multiple sulfatase deficiency (MSD) or Austin's disease is an extremely rare lysosomal storage disease characterised by a deficiency of all sulfatases whether lysosomal or not. Clinically, the disease combines variable proportions of clinical signs of metachromatic leukodystrophy (arylsulfatase A deficiency), mucopolysaccharidoses (types II, IIIA, IIID and VI are due to sulfatase deficiencies) and X-linked ichthyosis (steroid-sulfatase deficiency).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_848083807 |
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| English | Mucosulfatidosis |
Multiple sulfatase deficiency (MSD) or Austin's disease is an extremely rare lysosomal storage disease characterised by a deficiency of all sulfatases whether lysosomal or not. Clinically, the disease combines variable proportions of clinical signs of metachromatic leukodystrophy (arylsulfatase A deficiency), mucopolysaccharidoses (types II, IIIA, IIID and VI are due to sulfatase deficiencies) and X-linked ichthyosis (steroid-sulfatase deficiency). |
