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  • Title: 5,10-Methylenetetrahydrofolate reductase deficiency. Clinical and biochemical features of a further case.
    Author: Haan EA, Rogers JG, Lewis GP, Rowe PB.
    Journal: J Inherit Metab Dis; 1985; 8(2):53-7. PubMed ID: 3939530.
    Abstract:
    We report the case of a boy with 5,10-methylenetetrahydrofolate reductase deficiency. The clinical features consisted of severe mental retardation, spasticity and seizures remaining static to 7 years of age followed by a phase of rapid deterioration and death at 7 1/2 years of age. The main biochemical findings were homocystinaemia, homocystinuria, a normal methionine level in plasma and cerebrospinal fluid, an increased excretion of methionine in urine and a very low level of folate in the cerebrospinal fluid. The activity of 5,10-methylenetetrahydrofolate reductase was greatly reduced in the patient's lymphocytes and liver.
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