707 HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE RE-DUCTASE (MTHFR) DEFICIENCY: RESPONSE TO A HIGH-PROTEIN DIET

Homocystinuria due to cystathionine synthase deficiency.

Homocystinuria due to cystathionine beta synthase deficiency.

A two year-old male child presented with cutis marmorata congenita universalis, brittle hair, mild mental retardation, and finger spasms. Biochemical findings include increased levels of homocysteine in the blood-106.62 micromol/L (normal levels: 5.90-16 micromol/L). Biochemical tests such as the silver nitroprusside and nitroprusside tests were positive suggesting homocystinuria. The patient w...

Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine.

We investigated the effect of pyridoxine administration in three patients with homocystinuria due to cystathionine synthase deficiency. The drug decreased the plasma concentration and urinary excretion of methionine and homocystine and the urinary excretion of homolanthionine and the homocysteine-cysteine mixed disulfide. Urinary cystine rose somewhat. Oral methionine tolerance tests before and...

Myocardial Infarction in a Young Patient with Methylene Tetrahydrofolate Reductase (mthfr) Gene Mutation

Modifiable risk factors for CHD include high blood pressure, high blood cholesterol, smoking, obesity, physical inactivity, diabetes, and stress. When a patient presents with the typical features of CHD (like ours) but do not have the modifiable risk factors, genetic causes should be considered. A limited number of genetic variants are proven to be independent risk factors for thromboembolism. ...

Methylene-tetrahydrofolate reductase contributes to allergic airway disease

RATIONALE Environmental exposures strongly influence the development and progression of asthma. We have previously demonstrated that mice exposed to a diet enriched with methyl donors during vulnerable periods of fetal development can enhance the heritable risk of allergic airway disease through epigenetic changes. There is conflicting evidence on the role of folate (one of the primary methyl d...