Methylene tetrahydrofolate reductase (MTHFR) deficiency
Evidence-based neurology checklist on methylene tetrahydrofolate reductase (mthfr) deficiency: Genetics and pathology This is caused by mutations in the methylene tetrahydrofolate reductase (MTHFR) gene The gene is responsible for remethylation of homocysteine to methionine The transmission is…
Genetics and pathology
- This is caused by mutations in the methylene tetrahydrofolate reductase (MTHFR) gene
- The gene is responsible for remethylation of homocysteine to methionine
- The transmission is autosomal recessive
- The mutations result in 5-methyltetrahydrofolate deficiency
- This is the main methyl donor for methionine synthesis
- It is required for the synthesis of S-adenosyl-methionine (SAM)
- Symptoms may be triggered by infection
Cognitive features
Psychiatric features
Spinal cord features
Epileptic features
Other neurological features
Thromboembolic features
Systemic features
Biochemical features
Treatment
References
- Lossos A, Teltsh O, Milman T, et al. Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia. JAMA Neurol 2014; 71:901-904.
- Huemer M, Mulder-Bleile R, Burda P, et al. Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency. J Inherit Metab Dis 2016; 39:115-124.
- Baethmann M, Wendel U, Hoffmann GF, et al. Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency. Neuropediatrics 2000; 31:314-317.
- Iida S, Nakamura M, Asayama S, et al. Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report. BMC Neurol 2017; 17:47.
- Lin N, Jiang N, Dai Y, Gao J, Wang L. Adult-onset severe methylenetetrahydrofolate reductase deficiency characterized by reversible spastic paraplegia with a novel mutation. Neurol Sci 2016; 37:1735-1737.
- And 15 more. Subscribe to see the full list
