Abstract
Homocystinuria can be secondary to defects in the conversion of homocysteine either to cystathionine or to methionine. Osteoporosis and ectopia lentis are common features in the former entity (Mudd and Levy, 1983). There has been one patient described with a defect in the conversion of homocysteine to methionine who had a diagnosis of schizophrenia and who improved with folic acid therapy (Freeman et al., 1975). In the past year we have evaluated two unrelated children with periodic rages, seizures, and homocystinuria. Both patients improved dramatically when treated with folic acid.
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References
Freeman, J. M., Finkelstein, J. D. and Mudd, S. H. Folateresponsive homocystinuria and “schizophrenia.” N. Engl. J. Med. 292 (1975) 491–496
Mudd, S. H. and Levy, H. L. Disorders of transsulfuration. In Stanbury, J., Wyngaarden, J. and Fredrickson, D. (eds.) The Metabolic Basis of Inherited Disease, 5th edn., McGraw-Hill, New York, 1983, pp. 522–559
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© 1985 SSIEM and MTP Press Limited
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Murphy, J.V., Thome, L.M., Michals, K., Matalon, R. (1985). Folic Acid Responsive Rages, Seizures and Homocystinuria. In: Addison, G.M., Bartlett, K., Harkness, R.A., Pollitt, R.J. (eds) Inherited Disorders of Vitamins and Cofactors. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-8019-1_26
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DOI: https://doi.org/10.1007/978-94-011-8019-1_26
Publisher Name: Springer, Dordrecht
Print ISBN: 978-94-011-8021-4
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