Ataxia due to abetalipoproteinemia (Q41024): Difference between revisions
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Ataxia no contexto de abetalipoproteinemia, uma doença autossômica recessiva rara causada por uma mutação do gene MTP, que codifica a proteína de transferência de triglicerídeos microssomais, o que prejudica a capacidade de produzir lipoproteína de densidade muito baixa. Todos os pacientes apresentam má absorção de gordura, acantocitose, hipocolesterolemia e ausência de apolipoproteína B. | |||
| description / en | description / en | ||
Ataxia in the setting of abetalipoproteinemia, a rare autosomal recessive disorder caused by a mutation of the MTP gene coding for microsomal triglyceride transfer protein which impairs the ability to produce very low density lipoprotein. All patients have fat malabsorption, acanthocytosis, hypocholesterolemia, and absent apolipoprotein B. | |||
Revision as of 07:04, 13 August 2026
Ataxia in the setting of abetalipoproteinemia, a rare autosomal recessive disorder caused by a mutation of the MTP gene coding for microsomal triglyceride transfer protein which impairs the ability to produce very low density lipoprotein. All patients have fat malabsorption, acanthocytosis, hypocholesterolemia, and absent apolipoprotein B.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 8A03.13 |
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| English | Ataxia due to abetalipoproteinemia |
Ataxia in the setting of abetalipoproteinemia, a rare autosomal recessive disorder caused by a mutation of the MTP gene coding for microsomal triglyceride transfer protein which impairs the ability to produce very low density lipoprotein. All patients have fat malabsorption, acanthocytosis, hypocholesterolemia, and absent apolipoprotein B. |
