Mucolipidosis type 3 (Q91326): Difference between revisions
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A mucolipidose III ou polidistrofia pseudo Hurler é um erro inato do metabolismo clinicamente semelhante às mucopolissacaridoses de Scheie ou de Hurler-Scheie. As manifestações clínicas incluem rigidez articular que leva ao diagnóstico na infância, disostose múltipla e dismorfismo facial menos grave. A inteligência pode ser normal, mas a maioria das crianças tem dificuldades auditivas. O turvamento da córnea aparece à medida que o distúrbio progride. | |||
| description / en | description / en | ||
Mucolipidosis III (MLIII) or pseudo-Hurler-polydystrophy is an inborn error of metabolism clinically similar to Scheie's or Hurler-Scheie's mucopolysaccharidoses. Clinical manifestations include joint stiffness leading to the diagnosis during childhood, dysostosis multiplex and a less severe facial dysmorphism. Intelligence may be normal but most children have hearing difficulties. Corneal clouding appears as the disorder progresses. | |||
Revision as of 18:20, 15 August 2026
Mucolipidosis III (MLIII) or pseudo-Hurler-polydystrophy is an inborn error of metabolism clinically similar to Scheie's or Hurler-Scheie's mucopolysaccharidoses. Clinical manifestations include joint stiffness leading to the diagnosis during childhood, dysostosis multiplex and a less severe facial dysmorphism. Intelligence may be normal but most children have hearing difficulties. Corneal clouding appears as the disorder progresses.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1736525440 |
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| English | Mucolipidosis type 3 |
Mucolipidosis III (MLIII) or pseudo-Hurler-polydystrophy is an inborn error of metabolism clinically similar to Scheie's or Hurler-Scheie's mucopolysaccharidoses. Clinical manifestations include joint stiffness leading to the diagnosis during childhood, dysostosis multiplex and a less severe facial dysmorphism. Intelligence may be normal but most children have hearing difficulties. Corneal clouding appears as the disorder progresses. |
