Neutral lipid storage disease (Q40063): Difference between revisions
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Doença de depósito de lipídios neutros refere-se a um grupo de doenças caracterizadas por uma deficiência na degradação dos triglicerídeos citoplasmáticos e seu acúmulo em vacúolos lipídicos citoplasmáticos na maioria dos tecidos do corpo. O grupo é heterogêneo: Doença de depósito de lipídios neutros com ictiose (doença de Dorfman-Chanarin) e com miopatia (miopatia de depósito de lipídios neutros) podem ser distinguidos. | |||
| description / en | description / en | ||
Neutral lipid storage disease (NLSD) refers to a group of diseases characterised by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: NLSD with ichthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished. | |||
Revision as of 05:43, 13 August 2026
Neutral lipid storage disease (NLSD) refers to a group of diseases characterised by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: NLSD with ichthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C52.2 |
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| English | Neutral lipid storage disease |
Neutral lipid storage disease (NLSD) refers to a group of diseases characterised by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: NLSD with ichthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished. |
