Ataxia due to abetalipoproteinemia (Q41024): Difference between revisions

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Latest 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
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.