Mucolipidosis type 2 (Q91336): Difference between revisions
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Mucolipidose II (ou doença de inclusão celular) é uma doença de depósito lisossomal autossômica recessiva rara devido à deficiência de N-acetil-glucosamina 1-fosfotransferase clínica e radiologicamente semelhante à doença de Hurler (gengivas hipertróficas e língua aumentada, fácies grosseira, hérnia, hérnia, infiltração cutânea, mobilidade articular limitada, disostose múltipla, hepatoesplenomegalia, opacidades da córnea, surdez, deficiência intelectual, retardo motor e nanismo), mas com início durante os primeiros meses de vida, ou às vezes mesmo antes do nascimento. | |||
| description / en | description / en | ||
Mucolipidosis II (or I-cell disease) (MLII) is a rare autosomal recessive lysosomal storage disease due to N-acetylglucosaminyl 1-phosphotransferase deficiency clinically and radiologically similar to Hurler disease (hypertrophic gingivae and enlarged tongue, coarse facies, hirsutism, hernias, cutaneous infiltration, limited joint mobility, dysostosis multiplex, hepatosplenomegaly, corneal opacities, deafness, intellectual deficit and motor retardation (obvious as early as the age of 6 months), and dwarfism), but with onset during the first months of life, or sometimes even before birth. | |||
Revision as of 18:21, 15 August 2026
Mucolipidosis II (or I-cell disease) (MLII) is a rare autosomal recessive lysosomal storage disease due to N-acetylglucosaminyl 1-phosphotransferase deficiency clinically and radiologically similar to Hurler disease (hypertrophic gingivae and enlarged tongue, coarse facies, hirsutism, hernias, cutaneous infiltration, limited joint mobility, dysostosis multiplex, hepatosplenomegaly, corneal opacities, deafness, intellectual deficit and motor retardation (obvious as early as the age of 6 months), and dwarfism), but with onset during the first months of life, or sometimes even before birth.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1130629620 |
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| English | Mucolipidosis type 2 |
Mucolipidosis II (or I-cell disease) (MLII) is a rare autosomal recessive lysosomal storage disease due to N-acetylglucosaminyl 1-phosphotransferase deficiency clinically and radiologically similar to Hurler disease (hypertrophic gingivae and enlarged tongue, coarse facies, hirsutism, hernias, cutaneous infiltration, limited joint mobility, dysostosis multiplex, hepatosplenomegaly, corneal opacities, deafness, intellectual deficit and motor retardation (obvious as early as the age of 6 months), and dwarfism), but with onset during the first months of life, or sometimes even before birth. |
