Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes.

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Term Occurence Count Dictionary
cystinuria 2 endocrinologydiseases
homocystinuria 2 endocrinologydiseases
hyperhomocysteinemia 4 endocrinologydiseases

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cystinuria 23918 evolution of symptoms. Thrombotic events were not as frequent (5/24; 21% of patients) as reported in homo cystinuria due to cystathionine beta synthase (CBS) deficiency [[11]]. Even though almost all patients (21/24) ended
cystinuria 26340 events, but it is not known why such events are far less frequent in MTHFR deficiency than in classic homo cystinuria despite both deficiencies being associated with similar homocysteinemia levels [[11]]. Hypomethioninemia
homocystinuria 23914 evolution of symptoms. Thrombotic events were not as frequent (5/24; 21% of patients) as reported in homocystinuria due to cystathionine beta synthase (CBS) deficiency [[11]]. Even though almost all patients (21/24) ended
homocystinuria 26336 events, but it is not known why such events are far less frequent in MTHFR deficiency than in classic homocystinuria despite both deficiencies being associated with similar homocysteinemia levels [[11]]. Hypomethioninemia
hyperhomocysteinemia 2690 re-methylation of homocysteine into methionine. Biological hallmarks are moderately low plasmatic folate levels, hyperhomocysteinemia , hypomethioninemia and absence of methylmalonicaciduria, which is present in cobalamin metabolism disorders.
hyperhomocysteinemia 6112 ophthalmological examination, and echocardiography, performed to investigate disorders associated to hyperhomocysteinemia from genetic causes, were all normal (not shown). Genetic analysis of the MTHFR gene identified two
hyperhomocysteinemia 26168 metabolic defect, and notvitamins or renal filtration deficiencies, which can also be associated with hyperhomocysteinemia .Homocysteine is likely to promote thrombotic events, but it is not known why such events are far less
hyperhomocysteinemia 27757 (with visual hallucinations, cognitive disorder, drowsiness), and young onset thrombosis. In case of hyperhomocysteinemia , metabolic treatment should be started without delay.Additional filesAdditional file 1:‘Clinical,

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