Ataxia due to abetalipoproteinemia

Definition

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.

Also indexed as

Nearby in Hereditary ataxia

• 8A03.10Friedreich ataxia
• 8A03.11Ataxia due to Cerebrotendinous xanthomatosis
• 8A03.12Ataxia due to Refsum disease
• 8A03.14Hereditary episodic ataxia
• 8A03.15Ataxia due to mitochondrial mutations
• 8A03.16Spinocerebellar ataxia
• 4B4YOther specified diseases of the immune system
• 4B4ZDiseases of the immune system, unspecified