・cystathionine synthase deficiency
・decreased affinity of cystathione synthase for pyridoxal phosphate(B6)
about 50% of the patients respond to high doses of ☆pyridoxine
・methionine synthase deficiency
¥elevated serum 5-methyltetrahydrofolate
・Methylenetetrahydrofolate reductase (MTHFR) deficiency(N5-methyl THF to THF)(treatment:folate in diet)→ the most common cause
biochemistry
UWorld
Amboss level4
Optimized studying based on the forgetting curve vastly improves memorization. - What is reminDO?
Memorize