The Child with an Unusual Odor

Levine, R. : Insulin—the biography of a small protein. N. Engl. J. Med. 277: 1059, 1967.

Centerwall, W.R. , and Centerwall , S.A. : Phenylketonuria (Folling's disease): the story of its discovery. J. Hist. Med. 16: 292, 1961.

Knox, W.E. : In The Metabolic Basis of Inherited Disease, 3rd ed. J. B. Stanbury , J. B. Wyngaarden , and D. S. Frederickson , Eds. New York, McGraw-Hill, 1972, pp. 266-95.

Murphy, D. : Termination of dietary treatment of phenylketonuria. Irish J. Med. Sci. 452: 355, 1963.

Baumeister, A.A. : Effects of dietary control on intelligence in phenylketonuria. Am. J. Ment. Defic. 71: 840, 1967.

Paine, R.S. : Phenylketonuria. Clin. Proc. Child Hosp. (Wash.) 20: 143, 1964.

Menkes, J.H. , Hurst, P.L. , and Craig, J.M. : New syndrome: progressive familial cerebral dysfunction associated with an unusual urinary substance. Pediatrics 14: 462, 1954.

Dancis, J. , Levitz, M. : Abnormalities of branched-chain amino acid metabolism. In The Metabolic Basis of Inherited Disease, 3rd ed. J. B. Stanbury , J. B. Wyngaarden , and D. S. Fredrickson , Eds. New York, McGraw-Hill , 1972, p. 430.

Ibid., p. 433.

DiGeorge, A.M. , Anerbach, V.H. , and Mabry, C.C. : Leucine-induced hypoglycemia. II. The blood glucose depressant action in normal individuals. J. Pediatr. 63: 295, 1963.

Donnell, G.N. , Lieberman, E. , Shaw, K.N.F. , and Koch, R. : Hypoglycemia in Maple Syrup Urine disease . Am. J. Dis. Child. 113: 60, 1967.

Dancis, J. , Hutzler, J. , and Levitz, M. : The diagnosis of Maple Syrup Urine disease (branched chain ketoaciduria) by in vitro study of the peripheral leukocyte. Pediatrics 32: 234, 1963.

Snyderman, S.E. , Norton, P.M. , Roitman, E. , and Holt, L.E. Jr.: Maple Syrup Urine disease, with particular reference to dietotherapy. Pediatrics 34: 454, 1964.

Scriver, C.R. , et al.: Thiamin-responsive Maple-Syrup-Urine disease. Lancet 1: 310, 1971.

Dancis, F. , Hutzler, J. , and Rokkones, T. : Intermittent branched-chain ketonuria. Variant of Maple-Syrup-Urine disease . N. Engl. J. Med. 276: 84, 1967.

Schulman, J.D. , Lustberg, T.J. , and Siegmiller , J.E. : Abstracts of Papers . Annual Meeting Soc. Ped. Res., 1969, p. 63.

Goodman, S.E. , et al.: The treatment of Maple Syrup Urine disease. J. Pediatr. 75: 485, 1969.

Jepson, J.B. , Smith, A.J. , and Strang, L.B. : An inborn error of metabolism with urinary excretion of hydroxyacids, ketoacids and amino acids. Lancet 2: 1334, 1958.

Hooft, C. , Timmermans, J. , Snoeck, J. , Antener, T. , Ayarert, W. , and Van den Hende, C. : Methionine malabsorption syndrome. Ann. Paediatr. 205: 73, 1965.

Efron, M.L. , and Ampola, M.G. : The aminoacidurias. Pediatr. Clin. North Am. 14: 881, 1967. 21. Budd, M.A. , Tanaka, K. , Holmes, L. , et al.: Isovaleric acidemia: clinical features of a new genetic defect of leucine metabolism . N. Engl. J. Med. 277: 321, 1967.

Ando, T. , Klingberg, W.G. , Ward, A.N. , et al.: Isovaleric acidemia presenting with altered metabolism of glycine . Pediatr. Res. 5: 478, 1971.

Lott , 1. T., Erickson, A. M., and Levy, H.: Dietary treatment of an infant with Isovaleric acidemia. Pediatrics 49: 616, 1972.

Sidbury, J.B. , Smith, E.K. , and Harlan, W. : An inborn error of short-chain fatty acid metabolism: the odor-of-sweaty-feet syndrome. J. Pediatr. 70: 8, 1967.

Ando, T., Nyhan , W.L., Bachmann , et al.: Isovaleric acidemia. Identification of Isovalerate, Isovalerylglycine and 3-hydroxyisovalerate in urine of a patient previously reported as butyric and hexanoic acidemia. J. Pediatr. 82: 243, 1973.

Stokke, O. , Eldjarn, L. , Jellum, E. , et al.: Beta-Methylcrotonyl-CoA Carboxylase deficiency: a new metabolic error in leucine degradation. Pediatrics 49: 726, 1972.

Gompertz, D. , Draffan, G.H. , Watts, J.L. , et al.: Biotin responsive beta methylcrotonylglycinuria . Lancet 2: 22, 1971.

Humbert, J.A. , Hammond, K.B. , Hathaway, W.E. , et al.: Trimethylaminuria: the fish-odour syndrome. Lancet 2: 770, 1970.

Perry, T.L. , Hardwick, D.F. , Dixon, G.H. , Dolman, C.L. , and Hansen, S. : Hypermethioninemia: a metabolic disorder associated with cirrhosis, islet cell hyperplasia, and renal tubular degeneration . Pediatrics 36: 326, 1965.

Greenberg, R.E. , Chase, H.P. , Lovriem, E. , Hurvitz, R. , and Efron, M.L. : Hypermethionemia. Abst. Amer. Ped. Soc., 74th Ann. Meet., 1964, p. 142.

Sas-Kortsak, A. , Jackson, S.H. , and Scriver, C. : Tyrosiluria and Hypermethionemia in an Infant with Hepatic Cirrhosis and Nodular Hyperplasia. Abst. Amer. Ped. Soc., 74th Ann. Meet, 1964, p.142.

La Du, B. , and Gjessing, L.R. : Tyrosinosis and Tyrosinemia. The Metabolic Basis of Inherited Disease, 3rd ed. J. B. Stanbury , J. B. Wyngaarden , and D. W. Fredrickson , Eds. New York, McGraw-Hill, 1972, p. 302.

Ibid. pp. 302, 303.

Lindemann, R. , Gjessing, L.R. , Morton, B. , et al.: Amino acid metabolism in hereditary fructosemia. Acta Paediat. Scand. 59: 141, 1970.