Methylenetetrahydrofolate reductase deficiency

Overview

Methylene tetrahydrofolate reductase deficiency: A inborn error of metabolism where an inherited deficiency of methylene tetrahydrofolate reductase causes symptoms of ranging severity - from asymptomatic to severe neurological degeneration and premature death.

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The list of signs and symptoms mentioned in various sources for Methylene tetrahydrofolate reductase deficiency includes the 20 symptoms listed below:

Developmental delay Motor abnormality Gait abnormality Mental retardation Seizures Psychiatric manifestations Moderate homocystinuria Homocystinemia Premature death Asymptomatic Developmental delay Motor abnormality Gait abnormality Mental retardation Seizures Psychiatric manifestations Moderate homocystinuria Homocystinemia Premature death Asymptomatic Note that Methylene tetrahydrofolate reductase deficiency symptoms usually refers to various symptoms known to a patient, but the phrase Methylene tetrahydrofolate reductase deficiency signs may refer to those signs only noticable by a doctor.

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