Sign Up for a Free Account

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

Sign Up for a Free Account For information on discounts, see Plans & Pricing

  • 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.

Diagnostic pathway and management of the patient with a suspected remethylation disorder

Legend: Met, methionine; MMA, methylmalonic acid; MTHFD1, methylenetetrahydrofolate dehydrogenase 1; MTHFR, methylenetetrahydrofolate reductase; N, normal; OHCbl, hydroxotranscobalamin; TC, transcobalamin VitB12, tHcy, total homocysteine; vitamin B12. Notes: (1) All biochemical results refer to pre-treatment samples; (2) Multiple typographical errors in the original figure have been corrected 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.)

Related Article

Related Media

Associated Disorders

  • Alcohol-tobacco amblyopia
  • Cerebral vascular disease
  • Dementia
  • Depression
  • Developmental delay
  • Folate deficiency
  • Gastric resection
  • Glossitis
  • Imerslund-Grasbeck syndrome
  • Malabsorption
  • Megaloblastic anemia
  • Myelopathy
  • Optic neuropathy
  • Pernicious anemia
  • Polyneuropathy
  • Regional enteritis
  • Subacute combined degeneration of the spinal cord