Role of diet therapy in management of hereditary metabolic diseases

Nutrition Research

Volumn 18, Issue 2, 1998, Pages 391-402

  Prasad, C ^a   Dalton, L ^a   Levy, H ^b  

^a New Janeway Childrens Health and Rehabilitation Centre   (Canada)

^b BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Galactosemia; Glycogen Storage Disorders; Maple Syrup Urine Disease; Multiple Carboxylase Deficiency; Nutrition; Phenylketonuria; Urea Cycle Disorders

Indexed keywords

ALLOISOLEUCINE; AMMONIA; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; OXOACID; PHENYLALANINE 4 MONOOXYGENASE;

DIET SUPPLEMENTATION; DIET THERAPY; DISORDERS OF CARBOHYDRATE METABOLISM; EARLY DIAGNOSIS; GALACTOSEMIA; GENE MUTATION; GLYCOGEN STORAGE DISEASE; HUMAN; INBORN ERROR OF METABOLISM; MAPLE SYRUP URINE DISEASE; MENTAL DEVELOPMENT; MOLECULAR CLONING; PHENYLKETONURIA; PRIORITY JOURNAL; REVIEW; UREA CYCLE;

EID: 0031886466     PISSN: 02715317     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0271-5317(98)00029-3     Document Type: Review

References (44)

1. 1. Garrod A.The incidence of Alcaptonuria. 1902.
2. 2.Garrod A.Inborn errors of Metabolism.Oxford: Oxford University Press, 1909.
3. 3. Versmold HT, Bremer HJ, Herzog V, et al. A metabolic disorder similar to Zellweger syndrome with hepatic acatalasia and absence of peroxisome, altered content and redox state of cytochromes, and infantile cirrhosis with hemosiderosis. Eur J Pediatr 1077; 124;(4):261-75.
4. 4.Tint GS, Irons M, Elias ER, et al. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 1994;3302):107-13.
5. 5. Bickel H. Influence of phenylalanine intake on phenylketonuria. Lancet 1953; 2:812-813.
6. 6. Weglage J, Ullrich K, Pietsch M, Funders B, Guttler F, Harms E. Intellectual, neurologic, and neuropsychologic outcome in untreated subjects with nonphenylketonuria hyperphenylalaninemia. German Collaborative Study on Phenylketonuria. Pediatr Res 1997; 42(3):378-84.
7. 7.Matsuo K, Hommes F. Regional distribution of the phenylalanine-sensitive ATP-sulphurylase in brain. J Inherit Metab Dis 1987; 10(1):62-5.
8. 8.Medical Research Council Working Party on Phenylketonuria. Phenylketonuria die to phenylalanine hydroxylase deficiency: an unfolding story. Br Med J 1993; 306:115-119.
9. 9. Diamond A. Evidence for the importance of dopamine for prefrontal cortex functions early in life. Philos Trans R Soc Lond B Biol Sci 1996; 351(1346):1483-93.
10. 10.Diamond A. Phenylalanine levels of 6-10 mg/dl may not be as benign as once thought. Acta Paediatr Suppl 1994; 407:89-91.
11. 11.Burgard P, Rey F, Rupp A, Abadie V, Rey J. Neuropsychologic functions of early treated patients with phenylketonuria, on and off diet: results of a cross-national and cross-sectional study. Pediatr Res 1997; 41(3):368-74.
12. 12.Burgard P, Schmidt E, Rupp A, Schneider W, Bremer HJ.Intellectual development 6 the patients of the German Collaborative Study of children treated for phenylketonuria. Eur J Pediatr 1996; 155 Suppl 1:S33-8.
13. 13.Fisch RO, Matalon R, Weisberg S, Michals K. Phenylketonuria:current dietary treatment practices in the United States and Canada.J Am Coll Nutr 1997; 16 (2):147-51.
14. 14. Levy HL, Waisbren SE. PKU in adolescents: rationale and psychosocial factors in tied continuation. Acta Paediatr Suppl 1994; 407:92-7.
15. 15. Reilly C, Barrett JE, Patterson CM, Tinggi U, Latham SL, Marrinan A. Trace element nutrition status and dietary intake of children with phenylketonuria. Am J Clin Nutr 1990; 52(1):159-65.
16. 16. Acosta PB. Nutrition studies in treated infants and children with phenylketonuria: vitamins, minerals, trace elements. Eur J Pediatr 1996; 155 Suppl 1:S136-9.
17. 17. Lombeck I, Jochum F, Terwolbeck K. Selenium status in infants and children with phenylketonuria and in maternal phenylketonuria. Eur J Pediatr 1996; 155 Suppl 1:S140-4.
18. 18. Allen JR, Humphries IR, Waters DL, et al. Decreased bone mineral density in children with phenylketonuria. Am J clin Nutr 1994; 59(2):419-22.
19. 19. Hillman L, Schlotzhauer C, Lee D, et al. Decreased bone mineralization in children with phenylketonuria under treatment. Eur J Pediatr 1996; 155 Suppl 1:s148-52.
20. 20. Lenke RR, Levy HL. Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies. N Engl J Med 1980; 303(21):1202-8.
21. 21. Hanley WB, Koch R, Levy HL, et al. The North American Maternal Phenylketonuria Collaborative Study, developmental assessment of the offspring: preliminary report. Eur J Pediatr 1996; 155 Suppl 1:S169-72.
22. 22. Friedman EG, Koch R, Azen C, et al. The International Collaborative Study on maternal phenylketonuria: organization, study design, and description of the sample. Eur J Pediatr 1996; 155 Suppl 1:s158-61.
23. 23. Levy HL, Lobbregt D, Barnes PD, Poussaint TY. Maternal phenylketonuria: magnetic resonance imaging of the brain in offspring. J Pediatr 1996; 128 (6):770-5.
24. 24. Kecskemethy HH, Lobbregt D, Levy HL. The use of gelatin capsules for ingestion of formula in dietary treatment of maternal phenylketonuria. J Inherit Metab Dis 1993; 16(1):111-8.
25. 25. Levy HL, Waisbren SE, Lobbregt D, et al. Maternal non-phenylketonuric mild hyperphenylalaninemia. Eur J Pediatr 1996; 155 Suppl 1:s20-5.
26. 26. Levy HL, Ghavarni M. Maternal phenylketonuria: a metabolic teratogen. Teratology 1996; 53(3):176-84.
27. 27. Marshall L, DiGeorge A. Maple syrup urine disease in the Old order Mennonites. Am.J.Hum.Genet. 1981; 33:139 A.
28. 28. Naylor EW, Guthrie R. Newborn screening for maple syrup urine disease (branched-chain ketoaciduria). Pediatrics 1978; 61(2):262-6.
29. 29. Scriver C, MacKenzie S, Clow C, Delvin E. Thiamine-responsive maple syrup urine disease. Lancet 1971; I:310-312.
30. 30. DiGeorge A, Rezvani I, Garibaldi L, Schwartz M. Prospective study of maple syrup urine disease for the first four days of life. N Engl J Med 1982; 307:1492-1495.
31. 31. Chaung D, Shin V. Disorders of branched chain amino acid and keto acid metabolism. (7th ed.) New York: McGraw-Hill, 1995. (Scriver C, Beaudet A, Sly W, D. V, eds. The metabolic and molecular bases of Inherited Disease; vol 1).
32. 32. Kaplan P, Mazur A, Field M, et al. Intellectual outcome in children with maple syrup urine disease. J Pediatr 1991; 119(1 (Pt 1)):46-50.
33. 33. Levy HL, Sepe SJ, Shih VE, Vawter GF, Klein JO. Sepsis due to Escherichia coli in neonates with galactosemia. N Engl J Med 1977; 297(15):823-5.
34. 34. Litchfield W, Wells W. Effect of galactose on free radical reactions of polymorphonuclear leukocytes. Arch Biochem Biophys. 1978; 188:26-30.
35. 35. Widhalm K, Miranda da Cruz BD, Koch M. Diet does not ensure normal development in galactosemia (see comments). J Am Coll Nutr 1997; 16(3):204-8.
36. 36. Schweitzer S, Shih Y, Jakobs C, Brodehl J. Long-term outcome in 134 patients with galactosemia. Eur J Pediatr 1993; 152(1):36-43.
37. 37. Kaufman F, Kogut MD, Donnell GN, Koch H, Goebelsmann U. Ovarian failure in galactosemia (letter). Lancet 1979; 2(8145):737-8.
38. 38. Irons M, Levy HL, Pueschel S, Castree K. Accumulation of galactose-1-phosphate in the galactosemic fetus despite maternal milk avoidance. J Pediatr 1985; 107(2):261-3.
39. 39. Elass LJ, 2nd, Langley S, Paulk EM, Hjelm LN, Dembure PP. A molecular approach to galactosemia. Eur J Pediatr 1995; 154(7 Suppl 2):S21-7.
40. 40. Arn PH, Hauser ER, Thomas GH, Herman G, Hess D, Brusilow SW. Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma. N Engl J Med 1990; 322(23):1652-5.
41. 41. Bachmann C, Colombo JP. Increased tryptophan uptake into the brain in hyperammonemia. Life Sci 1983; 33(24):2417-24.
42. 42. Maestri NE, Hauser ER, Bartholomew D, Brusilow SW. Prospective treatment of urea cycle disorders. J Pediatr 1991; 119(6):923-8.
43. 43. Honeycutt D, Callahan K, Ruthledge L, Evans B. Heterozygote ornithine transcarbamylase deficiency presenting as symptomatic hyperammonemia during initiation of valporate therapy. Neurology 1992; 42(3 Pt 1):666-8.
44. 44. Hasegawa T, Tzakis AG, Todo S, et al. Orthotopic liver transplantation for ornithine transcarbamylase deficiency with hyperammonemic encephalopathy. J Pediatr Surg 1995; 30(6):863-5.