Very High Plasma Homocysteine without Malnutrition or Inherited Disorder

Guillaume Grzych ^{1 2}Claire Douillard ³Julien Lannoy ⁴Marie Joncquel Chevalier Curt ¹

The Clinical Chemist, 2020

An 18-year-old man with no previous medical history presented
with pain on walking. He presented with severe sensorimotor axonal polyneuropathy, confirmed by electromyography. Urinary toxicology tests were negative. Plasma analysis revealed hyperhomocysteinemia at 120 µmol/L, assessed by mass spectrometry. Laboratory results showed no folate or vitamin B12 deficiency, and no evidence of malnutrition or megaloblastic anemia.

Link to article: https: //pubmed.ncbi.nlm.nih.gov/33141907/