Abstract
In 5,10-THF-reductase deficiency, first described by Mudd et al. in 1972, homocystinuria with normal plasma methionine is clinically associated with mental retardation, behavioural abnormalities and proximal muscular weakness. We observed a family with 7 children. Two of them, a 17 yrs old boy and a 19 yrs old girl, presented with mental retardation from early childhood and progressive muscular rigidy, mainly of extrapyramidal origin with onset at school age. Two other siblings with similar symptoms suddenly had died prior to our investigation at the age of 13 and 21, respectively. A marked homocystinuria (3 mmol/d) was found in our patients. Plasma homocystine ranged between 100 and 200 μmol/l; methionine, however, was subnormal. The determination of the 5,10-THF-reductase in lymphocytes and fibroblasts revealed a very low activity. (15-30% in LC and 0-7% in fibroblasts)
A therapeutic trial with leucovorine (5-formyl-THF) resulted in a prompt reduction of urinary homocystine excretion accompanied by an improvement of the neurological disturbances.
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Michalk, D., Schmidt, H., Mittermaier, G. et al. Homocystinuria due to 5, 10-methylenetetrahydrofolate (THF) reductase deficiency: clinical presentation and treatment: 62. Pediatr Res 14, 175 (1980). https://doi.org/10.1203/00006450-198002000-00089
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DOI: https://doi.org/10.1203/00006450-198002000-00089