methylenetetrahydrofolate reductase deficiency
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Genetics
- autosomal recessive
- associated with defects in MTHFR
Clinical manifestations
- wide range of features
- developmental delay
- severe mental retardation
- microcephaly[2]
- episodes of cyanosis[2]
- perinatal death
- psychiatric disturbances
- later-onset neurodegenerative disorders
Laboratory
- complete blood count
- no anemia
- urine homocysteine: homocysteinuria
- serum homocysteine: homocysteinemia
- serum methionine: may be low or low-normal
- folate in CSF: low
- MTHFR genotyping, MTHFR gene mutation
- 5-Methyltetrahydrofolate in CSF: low
- 5-Methyltetrahydrofolate in serum/plasma: low
Management
- directed toward reducing homocysteine levels
- betaine supplementation
- folate & vitamin B12 supplementation
- riboflavin & pyridoxine supplementation
- 5-methyl
More general terms
References
- ↑ OMIM https://mirror.omim.org/entry/236250
- ↑ 2.0 2.1 2.2 Sahai I et al Case 27-2014 - A 10-Month-Old Boy with Microcephaly and Episodic Cyanosis. N Engl J Med 2014; 371:847-858. August 28, 2014 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/25162892 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMcpc1400833