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methylenetetrahydrofolate reductase deficiency
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
General
enzyme deficiency
inborn error of metabolism
Database Correlations
OMIM 236250
References
- OMIM :accession 236250
- 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
PMID: 25162892
http://www.nejm.org/doi/full/10.1056/NEJMcpc1400833