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8A03.13 Ataxia due to abetalipoproteinemia

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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.

synonyms

• Ataxia due to abetalipoproteinemia
• Ataxia due to Bassen-Kornzweig syndrome

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