This is an image preview.
Start a Free Account
to view the full image.

Nearly 3,000 illustrations, including video clips of neurologic disorders.
Every article is reviewed by our esteemed Editorial Board for accuracy and currency.
Full spectrum of neurology in 1,200 comprehensive articles.
Listen to MedLink on the go with Audio versions of each article.

Metabolic pathways involved in remethylation disorders

Download

Legend: AdoCbl, adenosyl-Cbl; AdoHcy, adenosylhomocysteine; AdoMet, adenosylmethionine; BHMT, betaine homocysteine methyltransferase; cbl C-G, cobalamin C-G; CBS, cystathionine-beta-synthase; CH2-THF, 5,10-methylenetetrahydrofolate; CH3-THF or MTHF, methyl-tetrahydrofolate; CoIIbl and CoIIIbl indicate different redox states of cobalamin, with Co2+ and Co3+, respectively; DHF, dihydrohydrofolate; DMG, dimethylglycine; Gly, glycine; HC or Hcy, homocysteine; MeCbl, methylcobalamin; Met, methionine; MS, methionine synthase; MSR, methionine synthase reductase; MTHFR, methylenetetrahydrofolate reductase; OHCbl, hydroxotranscobalamin; Ser, serine; TC, transcobalamin; THF, tetrahydrofolate. Note: Minor inconsistencies in the original labeling have been clarified in the revised legend by Dr. Douglas J Lanska. (Source: Huemer M, Diodato D, Schwahn B, et al. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. J Inherit Metab Dis 2017;40[1]:21-48. Creative Commons Attribution 4.0 International License, http://creativecommons.org/licenses/by/4.0.)