Abetalipoproteinaemia
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Abetalipoproteinaemia. This is caused by mutations in the MTP gene. The transmission is autosomal recessive. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the MTP gene
- The transmission is autosomal recessive
- It is infantile onset
Pathology
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Central features
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Peripheral neuropathy (PN) features
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Other features
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Differential diagnosis (of large fiber neuropathy)
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Treatment
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References
- Zamel R, Khan R, Pollex RL, Hegele RA. Abetalipoproteinaemia: two case reports and literature review. Orphanet J Rare Dis 2008; 3:19.
- Miller RG, Davis CJF, Illingworth DR, Bradley W. The neuropathy of abetalipoproteinaemia. Neurology 1980; 30:1286-1291.
- Amato AA, Russell JA. Neuromuscular disorders. McGraw Hill New York 2008 Chapter 10.
Related checklists
- Ataxia telangiectasia (AT)
- Ataxia-telangiectasia like disorder (ATLD)
- COQ8A ataxia
- Cayman ataxia
- Cockayne syndrome
- Autosomal recessive spinocerebellar ataxia with raised alpha-fetoprotein
- Gordon Holmes syndrome (GHS)
- Autosomal recessive spinocerebellar ataxias (SCAR)
- Autosomal recessive cerebellar ataxia with STUB1 mutations
- Spinocerebellar ataxia with axonal neuropathy (SCAN1)
- Infantile-onset spinocerebellar ataxia (IOSCA)
