Methylene tetrahydrofolate reductase deficiency
Incidence
More than 30 cases reported. AR disease. Seen mostly in females.
Clinical Characteristics
It may occur from first week of life until adolescence or even adulthood (most are recognized during first year of life). There is non-specific psychomotor retardation, microcephaly, seizures, gait disturbance, psychiatric manifestation may occur following a period of normal development. The clinical symptoms and signs are: Mental retardation, microcephaly, gait disturbance, psychiatric disturbances, seizures, anbnormal EEG, oclusions, limb weekness. In a few patients reccurrent strokes appeared in early adulthood as a consequence of vascular lesions similar to homocystinuria. There is moderate homocystinuria and homocysteinemia, with low or normal levels of methionine. Serum folate are usually low. Cobalamine levels are normal. No anemia is present. May have secondary carnitine deficiency.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
Serum folate are usually low. Aminoacids in plasma and urine. Laboratory investigation show: HIGH: homocysteine (P, U), cystathionine (U). LOW: 5-methyl-THF (CSF), HVA and 5HIAA (CSF), methionine (P)