methylenetetrahydrofolate reductase deficiency

methylenetetrahydrofolate reductase deficiency

An autosomal recessive condition (OMIM:236250) characterised by homocysteinuria, homocysteinaemia, developmental delay, severe mental retardation, perinatal death, psychiatric disturbances and later-onset neurodegeneration.

Molecular pathology
Defects in MTHFR cause methylenetetrahydrofolate reductase deficiency.
References in periodicals archive ?
Methylenetetrahydrofolate Reductase Deficiency is a genetic inability to process Vitamin B12 and requires treatment with Betaine.
The issued claims cover methods for determining methylenetetrahydrofolate reductase levels based upon genotype, as well as methods for associating methylenetetrahydrofolate reductase deficiency with the risk of cardiovascular disease, cancers, neurological disorders, and disorders influenced by folic acid metabolism, or the prognosis of patients with these diseases.
A two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders by tandem mass spectrometry.
Effect of betaine on S-adenosylmethionine levels in cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy.

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