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

8 clinical trials for this condition and its sub-types, 1 tagged with Homocystinuria due to methylene tetrahydrofolate reductase deficiency itself.

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Where it sits in the disease tree

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↑ Hereditary peripheral neuropathy (479) ↑ Homocystinuria (11) ↑ Disorder of folate metabolism and transport (2)

Including sub-types (8) Tagged with Homocystinuria due to methylene tetrahydrofolate reductase deficiency (1)

Not yet finished but already full! 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth