Homocystinuria due to methylene tetrahydrofolate reductase deficiency

MONDO:0009353

Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterized by neurological manifestations.

Also known as: MTHFR deficiency, homocystinuria due to methylene tetrahydrofolate reductase deficiency, methylene tetrahydrofolate reductase deficiency, 5,10 alpha methylenetetrahydro-folate reductase deficiency, 5,10-alpha-methylenetetrahydro-folate reductase deficiency, Homocysteinemia due to methylenetetrahydro-folate reductase deficiency, Homocysteinuria due to methylenetetrahydro-folate reductase deficiency, MTHFR deficiency, thermolabile type

9 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Metabolic disease (233) Nervous system disorder (231) Hereditary disease (176) Peripheral nervous system disorder (114) Neuromuscular disease (106) Peripheral neuropathy (91) Inborn errors of metabolism (45) Human disease (14) Hereditary neurological disease (6)

Trials to join now! 6 Not yet finished but already full! 1 Completed 1 Terminated 1

Laser test could objectively measure nerve pain for first time

Diagnosis Completed

This study tested whether a diode laser can act as a biomarker to measure neuropathic pain in people with peripheral neuropathy. Researchers compared pain responses to a lidocaine patch versus a placebo patch in 75 participants. The goal was to see if the laser test could disting…

Phase: NA • Sponsor: University of Utah • Aim: Diagnosis

Last updated Jun 27, 2026 12:09 UTC

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Broader categories

Laser test could objectively measure nerve pain for first time