Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterized by neurological manifestations.
Comprehensive, easy-to-understand information about this condition
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hyperhomocysteinemia
MONDO:0004743
hereditary folate malabsorption
MONDO:0009238
formiminoglutamic aciduria
MONDO:0009240
classic homocystinuria
MONDO:0009352
neurodegenerative syndrome due to cerebral folate transport deficiency
MONDO:0013110
constitutional megaloblastic anemia with severe neurologic disease
MONDO:0013456