Homocystinuria: differential diagnosis
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Homocystinuria: differential diagnosis. Vitamin B12 deficiency, Folate deficiency, Renal failure, Nitrous oxide. Fully referenced neurology checklist.
Other causes of hyperhomocysteinaemia
- Vitamin B12 deficiency
- Folate deficiency
- Renal failure
- Nitrous oxide
- Methotrexate (MTX)
- Methylene tetrahydrofolate reductase deficiency (MTHFR) deficiency
- Methionine adenosyltransferase I/III deficiency
Differential diagnosis of ectopic lens
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References
- Morris AA, Kožich V, Santra S, et al. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. J Inherit Metab Dis 2017; 40:49-74.
- Woods E, Dawson C, Senthil L, Geberhiwot T. Cerebral venous thrombosis as the first presentation of classical homocystinuria in an adult patient. BMJ Case Rep 2017; pii: bcr2016217477.
- Couser NL, McClure J, Evans MW, Haines NR, Burden SK, Muenzer J. Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations. Ophthalmic Genet 2017; 38:91-94.
- Stabler SP, Steegborn C, Wahl MC, et al. Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiency. Metabolism 2002; 51:981-988.
