Arakawa's syndrome II

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A congenital syndrome of tetrahydrofolate methyltransferase deficiency.

Description

An inborn error of methylcobalamin metabolism with a deficiency of the enzyme tetrahydrofolate-methyltransferase. It is associated with mental and growth retardation, megaloblastic anaemia, vomiting, diarrhoea, pallor, pectus excavatum, scoliosis, hypotonia, hepatosplenomegaly, Neurological complications include myoclonus brain atrophy and ventricular dilation, epilepsy, EEG abnormalities, and seizures. Inheritance is autosomal dominant.

Bibliography

  • T. Arakawa, et al:
    Megaloblastic anaemia and mental retardation associated with hyperfolicacidaemia. Probably due to N-5 methyltetrahydrofolate transferase deficiency.
    Tohoku Journal of Experimental Medicine, Sendai, 1967, 93: 1-22.

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