Human genetic selection for the MTHFR 677>T polymorphism: A leap in the dark
Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.
Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients
The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia
mthfr and ADHD
Nitrous contra-indicated in c-section patient with mthfr
mthfr and nitrous
death of a child with an enzyme defect in the MTHFR gene after anaesthesia with nitrous oxide
Reversible nitrous oxide myelopathy and a polymorphism in the gene encoding 5,10-methylenetetrahydrofolate reductase
MTHFR and cleft palate
Nitrous oxide – laughing gas – is a widely used anaesthetic gas with many favourable but also some dangerous properties. Among the latter is the increase in homocysteine levels after nitrous oxide (N2O) exposure by inhibition of enzymes in the vitamin B12 pathway. Elevated homocysteine levels have been found to be an independent risk factor for ischemic events and are associated with an increased risk for perioperative myocardial ischemia. If a patient carries one or more loss-of-function mutations in enzymes of the methionine/homocysteine/folate pathway he is at an increased risk for hyperhomocysteinemia and if exposed to N2O might suffer severe, sometimes disastrous neurological damage. Recently, a case report in the New England Journal of Medicine reported the death of a child with an enzyme defect in the MTHFR gene after anaesthesia with nitrous oxide (NEJM 2003;349:45-50).
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