Zusammenfassung
Die Schädigung im Rahmen angeborener Stoffwechselerkrankungen ist Folge entweder der toxischen Wirkung eines in pathologischer Weise erhöhten Stoffwechselmetaboliten oder eines durch den Defekt entstandenen Mangels. Toxische Substanzen des Zwischenstoffwechsels wie auch Mangelzustände wirken sich kurz- und langfristig störend auf die energetische Homöostase und den unbeeinträchtigten Zellaufbau aus. Die sich daraus ableitenden Prinzipien der Behandlung angeborener Stoffwechselerkrankungen beruhen somit einerseits auf der Elimination oder zumindest reduzierten Zufuhr schädigender Grundmetabolite und andererseits auf dem Ausgleich primärer oder sekundärer Mangelsituationen. Eliminationsdiäten sind die klassische Methode, die Zufuhr einer schädigenden Ausgangssubstanz zu begrenzen, dies gilt v. a. für die häufigsten Störungen des Aminosäurestoffwechsels und die klassischen Zuckerunverträglichkeiten Galaktosämie und hereditäre Fruktoseintoleranz. Neben einer limitierten Zufuhr hat in den letzten Jahren eine Verbesserung der Exkretion pathologischer Metabolite zunehmende Bedeutung erlangt. Diese Innovationen beziehen sich v.a. auf verbesserte Möglichkeiten der Detoxifikation durch Konjugation, wie z. B. mit Glyzin, Carnitin oder Benzoesäure oder die gezielten Induktionsversuche krankheitsspezifischer Enzymsysteme mit Vitaminen in pharmakologischen Mengen.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
Literatur
Acosta PB, Fernhoff PM, Warshaw HS, Hambidge KM, Ernest A, McCabe ERB, Elsas LJ (1981) Zinc and copper status of treated children with phenylketonuria. J Parent Ent Nutr 5: 406–409
Bachmann C (1984) Treatment of congenital hyperammonemias. Enzyme 32: 56–64
Batshaw ML (1984) Hyperammonemia. Curr Prob Pediatr 14: 1–69
Böhles H, Wenzel D, Shin YS (1986) Progressive cerebellar and extrapyramidal motor disturbances in galactosaemic twins. Eur J Pediatr 145: 413–417
Böhles H, Ullrich K, Endres W, Behbehani AW, Wendel U (1991) Inadequate iron availability as a possible cause of low serum carnitine concentrations in patients with phenylketonuria. Eur J Pediatr 150: 425–428
Brusilow SW, Valle DL, Batshaw ML (1979) New pathways of nitrogen excretion in inborn errors of urea synthesis. Lancet 11: 452–454
Casey CE, Walravens PA, Hambidge KM (1981) Availability of zinc: loading tests with human milk, cow’s milk, and infant formulas. Pediatrics 68: 394–396
Chow CK (1979) Nutritional influences on cellular antoxidant defence systems. Am J Clin Nutr 32: 1066–1081
Darling G, Mathias P, O’Regan M, Naughten E (1992) Serum selenium levels in individuals on PKU diets. J Inher Metab Dis 15: 769–773
Davies NT (1982) Effects of phytic acid on mineral availability. In: Vahouny FV, Kritchevsky DI (eds) Dietary fibre in health and disease. Plenum Press, New York, pp 105–116
Fishier K, Koch R, Donnell GN, Wenz E (1980) Developmental aspects of galactosemia from infancy to childhood. Clin Pediatr 19: 38–44
Fraser IS, Russell P, Greco S, Robertson DM (1986) Resistant ovary syndrome and premature ovarian failure in young women with galactosaemia. Clin Reprod Fertil 4: 133–138
Francois B, Diels M, De la Brassinne M (1989) Iatrogenic skin lesions in Phenylketonurie children due to a low tyrosine intake. J Inher Metab Dis 12 [Suppl 2]: 332–334
Fry SC (1982) Phenolic components of the primary cell wall. Feruloylated disaccharides of D-galactose and L-arabinose from spinach polysaccharide. Biochem J 203: 493–504
Green HL, Slonim AE, O’Neill JA Jr, Burr IM (1976) Continuous nocturnal intragastric feeding for management of type I glycogen-storage disease. N Engl J Med 294: 423–425
Gross KC, Sams CE (1984) Changes in cell wall neutral sugar composition during fruit ripening: a species survey. Phytochemistry 23: 2457–2461
Gross KC, Acosta PB (1991) Fruits and Vegetables are a source of galactose: implications in planning the diets of patients with galactosaemia. J Inher Metab Dis 14: 253–258
Guttler F, Lou H (1986) Dietary problems of phenylketonuria: effect on CNS transmitters and their possible role in behaviour and neurophysiological function. J Inher Metab Dis 9: 169–177
Hausinger D, Gerok W (1984) Funktionelle Leberzellheterogenitat. Infusions-therapie 11: 245–253
Hussain R, Walker RB, Layrisse M, Clark P, Finch CA (1965) Nutritive value of food iron. Am J Clin Nutr 16: 465–471
Iafolla AK, Gale DS, Roe CR (1990) Citrate therapy in argininosuccinate lyase deficiency. J Pediatr 117: 102–105
Jordan MK, Brunner RL, Hunt MM, Berry HK (1985) Preliminary support for the oral administration of valine, isoleucine and leucine for phenylketonuria. Dev Med Child Neurol 27: 33–39
Kaufmann FR, Ng WG, Lu YK, Manis F, Colm I (1991) Effect of oral uridine in classic galactosemia. 8. Intern Neonatal Screening Symp; Fairmount Resort, Australia 11–15 Nov
Layrisse M, Martinez-Torres C, Roche M (1968) The effect of interaction of various foods on iron absorption. Am J Clin Nutr 21: 1175–1183
Lombeck I, Kasperek K, Feinendegen IE, Bremer KJ (1975) Serum selenium concentrations - patients with maple syrup urine disease and phenylketonuria under dietotherapy. Clin Chem 64: 57–61
Longhi R, Rottoli A, Vittorelli A (1987) Trace elements nutriture in hyperphe- nylalaninaemic patients. Eur J Pediatr 146 [Suppl I]:A 32–A 37
Lou H (1985) Large doses of tryptophan and tyrosine as a potential therapeutic alternative to dietary phenylalanine restriction in phenylketonuria. Lancet 11: 150
McCabe L, Ernest AE, Neifert MR, Yannicelli S, Nord AM, Garry PJ, McCabe ERB (1989) The management of breast feeding among infants with phenylketonuria. J Inher Metab Dis 12: 467–474
Pomeranz Y (1973) Interaction between glycolipids and wheat flour macromolecules in breadmaking. Adv Food Res 10: 153–188
Posati LP, Orr ML (1976) Composition of Foods, Dairy and Egg Products. USDA Handbook Nr. 8–1, Washington DC
Roe CR, Bohan TP (1982) L-carnitine therapy in propionic acidemia. Lancet 1: 1411–1412
Roesel RA, Mobley E, Kearse C (1982) L-Tryptophan supplementation in untreated phenylkatonuria (PKU). Fed Proc 41: 541 (A)
Scaglioni S, Zuccotti G, Vedovello M et al (1985) Study of serum ferritin in 58 children with classic phenylketonuria and persistent hyperphenylalaninaemia. J Inherited Metab Dis 8: 160
Schweitzer S, Shin Y, Jakobs C, Brodehl J (1992) Long-term outcome in 134 patients with galactosemia. Eur J Pediatr
Smit GPA, Berger R, Potasnick R, Moses SW, Fernandes J (1984) The dietary treatment of children with type I glycogen storage disease with slow release carbohydrate. Pediatr Res 18: 879–881
Svanberg U, Gebre-Medhin M, Ljungqvist B, Olsson M (1977) Breast milk compositions in Ethiopian and Swedish mothers. III. Amino acids and other nitrogenous substances. Am J Clin Nutr 30: 499–507
Thompson GN, Francis DEM, Halliday D (1991) Acute illness in maple syrup urine disease: Dynamics of protein metabolism and implications for management. J Pediatr 119: 35–41
Waggoner DD, Buist NRM, Donnell GN (1990) Long-term prognosis in galactosaemia: results of a survey of 350 cases. J Inher Metab Dis 13: 802–818
Waisbren SE (1983) Speech and language deficits in early treated children with galactosemia. J Pediatr 102: 75–77
Waisman HA, Smith BA, Brown ES, Gerritsen T (1972) Treatment of branched chain ketoaciduria ( BCKA) during acute illness. Clin Pediatr 11: 360–364
Wendel U, Langenbeck U, Lombeck I, Bremer H J (1982) Maple syrup urine disease - Therapeutic use of insulin in catabolic states. Eur J Pediatr 139: 172–175
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1993 Springer-Verlag Berlin Heidelberg
About this paper
Cite this paper
Böhles, H. (1993). Fortschritte in der diätetischen Behandlung angeborener Störungen des Aminosäure- und Kohlenhydratstoffwechsels. In: Koletzko, B. (eds) Ernährung chronisch kranker Kinder und Jugendlicher. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-78146-9_18
Download citation
DOI: https://doi.org/10.1007/978-3-642-78146-9_18
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-56569-7
Online ISBN: 978-3-642-78146-9
eBook Packages: Springer Book Archive