Homocystinuria caused by 5,10-methylenetetrahydrofolate reductase deficiency: A case in an infant responding to methionine, folinic acid, pyridoxine, and vitamin B 12 therapy

Abstract

1. Nyhan WL: Nonketotic hyperglycinemia, in Stanbury JB, Wyngaarden JB, and Fredrickson DS, editors: The metabolic basis of inherited disease, ed 4, New York, 1978 McGraw-Hill Book Company, Inc., pp 518-527. 2. Baumgartner R, Ando T, and Nyhan WL: Nonketotie hyperglycinemia, J PEDIA'rR 75:1022, 1969. 3. Gerritsen T, Kaveggia E, and Waisman HA: A new type of idiopathic hyperglycinemia with hypooxaluria, Pediatrics 36:882, 1965. 4. Spackman DA, Stein WH, and Moore S: Automatic recording apparatus for use in the chromatography of amino acids, Anal Chem 30:1190, 1958. 5. Sweetman L: Liquid partition chromatography and gas chromatography-mass spectrometry in identification of acid metabolites of amino acids, in Nyhan WL, editor: Heritable disorders of amino acid metabolism, New Ynrk, 1974, John Wiley & Sons, Inc. pp 730 751. 6. Shuman RM, Leech RW, and Scott CR: Ttle neuropathology of the nonketotic and ketotic hypergl)cincmias: Thrcc cases, Neurology 28:139, 1978. 7. Perry RL, Urgubart N, Maclean J. Evans ME, Hansen S, Davison AGF, Applegarth DA, MacLeod PH, and Lock ,IE: Nonketotic hyperglycinemia, N Engl J Med 292:1269, 1975. 8. Levy HL, Nishimura N, Erickson AM, and Janowska SE: Hyperglycinemia: in vivo comparison of nonketotic and ketotic (propionic acidemic) forms. 11. Valine response in nonketotic hyperglycinemia (abstr) Pediatr Res 6:395/135, 1972. 9. Gitzelmann R, Steinmann B, Otten A, Damermuth G. Herdan H, Reubi JC, and Cuenod M: Nonketotic hyperglycinemia treated with strychnine, a glycine receptor antagonist, Helv Paediatr Acta 32:517, 1977. 10. Young AB, and Synder SH: Strychnine binding associated with glycine receptors of the central nervous system, Proc NatI Acad Sci USA 70:2832, 1973. 11. Arneson D, Ch'ien LR, Chance P, and Wilroy RS: Strychnine therapy in nonketotic hyperglycinemia, Pediatrics 63:369, 1979.