Alpha-methylacyl-CoA racemase deficiency (AMACR)
Evidence-based neurology checklist on alpha-methylacyl-coa racemase deficiency (amacr): Pathology This is a peroxisomal enzyme deficiency It is caused by mutations in the AMACR gene The transmission is autosomal recessive There is accumulation of toxic bile acid intermediates The onset age is…
Pathology
- This is a peroxisomal enzyme deficiency
- It is caused by mutations in the AMACR gene
- The transmission is autosomal recessive
- There is accumulation of toxic bile acid intermediates
- The onset age is bimodal: in infancy and early adulthood
Neurological features
Systemic features
Differential diagnosis
Magnetic resonance imaging (MRI) brain: lesion sites
Magnetic resonance imaging (MRI) brain: other features
Other investigations
Treatment
References
- Klouwer FCC, Roosendaal SD, Hollak CEM, et al. Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency. Orphanet J Rare Dis 2024; 19:350.
- Dick D, Horvath R, Chinnery PF. AMACR mutations cause late-onset autosomal recessive cerebellar ataxia. Neurology. 2011; 76:1768-1770.
- Alsalamah AK, Khan AO. Asymptomatic retinal dysfunction in alpha-methylacyl-CoA racemase deficiency. Mol Vis 2021; 27:396-402.
- Haugarvoll K, Johansson S, Tzoulis C, et al. MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet J Rare Dis 2013; 8:1.
- Thompson SA, Calvin J, Hogg S, Ferdinandusse S, Wanders RJ, Barker RA. Relapsing encephalopathy in a patient with α-methylacyl-CoA racemase deficiency. BMJ Case Rep 2009; 2009:bcr08.2008.0814.
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