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38 - Nutrition therapies for inborn errors of metabolism

Published online by Cambridge University Press:  10 December 2009

Patti J. Thureen
By
Janet A. Thomas ,
Anne Tsai  and
Laurie Bernstein
Edited by
William W. Hay
Patti J. Thureen
Affiliation:
University of Colorado at Denver and Health Sciences Center
Janet A. Thomas
Affiliation:
Department of Pediatrics, The Children's Hospital, Denver, CO
Anne Tsai
Affiliation:
Department of Pediatrics, The Children's Hospital, Denver, CO
Laurie Bernstein
Affiliation:
Department of Pediatrics, The Children's Hospital, Denver, CO
William W. Hay
Affiliation:
University of Colorado at Denver and Health Sciences Center
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Summary

Inborn errors of metabolism are rare, but important causes of disease in the neonate. They cause significant morbidity and mortality that can in some cases be ameliorated or prevented by nutritional treatment. An increasingly large number of inborn errors of metabolism are being described many of which present or can be identified in the newborn period.

Premature infants have no less risk of inborn errors of metabolism than full-term neonates. However, inborn errors may be less frequently suspected in the premature infant because symptoms may resemble more common problems expected in those patients. In addition, diagnostic tests in the premature infant may be altered by common treatments. For example, whole blood transfusions can give false negative results on newborn screening for galactosemia. Premature infants are actually at higher risk for transient forms of some inborn errors for which a critical enzyme shows maturation in the perinatal period. In addition, advances in technology have led to the description of an increasing number of inborn errors of metabolism.

For each disorder, identification of specific abnormal metabolites leads to understanding the unique biochemistry of the disorder and is the key to developing approaches to management. Nutrition plays an important role in the management of inborn errors of metabolism. The benefit of a phenylalanine-restricted diet for PKU was described by Bickel and associates in 1953 after it was shown that modification of dietary intake could alter the biochemical imbalances of the patient.

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Information
Neonatal Nutrition and Metabolism , pp. 544 - 568
Publisher: Cambridge University Press
Print publication year: 2006

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References

Bickel, H., Gerrard, J., Hickmans, E. M.Influence of phenylalanine intake on phenylketonuria. Lancet 1953;265:812–13.CrossRefGoogle ScholarPubMed
Acosta, P. B., Fernhoff, P. M., Warshaw, H.et al.Zinc and copper status of treated children with phenylketonuria. J. Parenter. Enteral Nutr. 1981;5:406–9.CrossRefGoogle ScholarPubMed
Folling, A.Uber Ausscheidung von Phenylbrenztraub en saure in den Harn als Stoffwechsel anomalie in Verbindemgmit Imbezillitat. Hoppe-Seylers Z. Physiol Chem. 1934;277:169–76.CrossRefGoogle Scholar
Scriver, C. R., Kaufman, S. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., eds. The Metabolic and Molecular Bases of Inherited Disease. 8th edn. New York, NY: McGraw Hill; 2001:1667–724.Google Scholar
Koch, R., Friedman, E. G., Azen, C. G. et al. Report from the United States Collaborative Study of Children Treated for Phenylketonuria (PKU). In Bickel, H., Wachtel, U., eds. Inherited Diseases of Amino Acid Metabolism. Stuttgart, Federal Republic of Germany: George Thieme; 1985:134–50.Google Scholar
Lenke, R. R., Levy, H. L.Maternal phenylketonuria and hyperphenylalaninemia: an international survey of the outcome of untreated and treated pregnancies. N. Engl. J. Med. 1980;303:1202–8.CrossRefGoogle ScholarPubMed
Phenylketonuria (PKU): Screening and Management. NIH Consensus Statement. 2000;17(3):1–33.
Kure, S., Hou, D.-C., Ohura, T.et al.Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J. Pediatr. 1999;135:375–8.CrossRefGoogle ScholarPubMed
Bernegger, C., Blau, N.High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1919 patients observed from 1988 to 2002. Mol. Genet. Metab. 2002;77:304–13.CrossRefGoogle ScholarPubMed
Holme, E., Lindstedt, S.Tyrosinemia type I and NTBC. J. Inherit. Metab. Dis. 1998;21:507–17.CrossRefGoogle Scholar
Gilbert-Barness, E., Barness, L.Metabolic Diseases: Fundamentals of Clinical Management, Genetics, and Pathology. Natick, MA: Eaton Publishing; 2000:36–37.Google Scholar
Bonkowsky, H. L., Magnussen, C. R., Collins, A. R.et al.Comparative effects of glycerol and dextrose on porphyrin, precursor excretion in acute intermittent porphyria. Metabolism 1976;25:405–14.CrossRefGoogle ScholarPubMed
Halvorsen, S. Screening for disorders of tyrosine metabolism. In Bickel, H., Guthrie, R., Hammersen, G., eds. Neonatal Screening for Inborn Errors of Metabolism. New York, NY: Springer-;Verlag; 1980:45.CrossRefGoogle Scholar
Buist, N. R. M., Kennaway, N. G., Fellman, J. H. Tyrosinemia Type II: Hepatic cytosol tyrosine aminotransferase deficiency. In Bickel, H., Wachtel, U., eds. Inherited Diseases of Amino Acid Metabolism. Stuttgart, Federal Republic of Germany: George Thieme; 1985:203–35.Google Scholar
Halvorsen, S., Skjelkvale, L.Tyrosine aminotransferase deficiency (TATD): First case diagnosed on newborn screening and successfully treated with Phe-Tyr restricted diet from early age. Pediatr. Res. 1977;11:1017.Google Scholar
Giardini, O., Cantani, A., Kennaway, N. G., D'Eufemia, P.Chronic tyrosinemia associated with 4-hydroxyphenylpyruvate dioxygenase deficiency with acute intermittent ataxia and without visceral and bone involvement. Pediatr. Res. 1983;17:25–9.CrossRefGoogle ScholarPubMed
Kvittingen, E. A., Holme, E. Disorders of tyrosine metabolism. In Fernandes, J., Saudubray, J.-M., Berghe, G., eds. Inborn Metabolic Diseases: Treatment and Diagnosis. 3rd edn. Berlin: Springer; 2000:191.CrossRefGoogle Scholar
Rousson, R., Guilbaud, P.Long term outcome of organic acidurias: survey of 105 French cases (1967–1983). J. Inherit. Metab. Dis. 1984;7(suppl. 1):10–12.CrossRefGoogle Scholar
Scriver, C. R., Mackenzie, S., Clow, C. L.et al.Thiamine-responsive maple syrup urine disease. Lancet 1971;1:310–2.CrossRefGoogle ScholarPubMed
Elsas, L., Danner, D., Lubitz, D. et al. Metabolic consequence in inherited defects in branched-chain alpha ketoacid dehydrogenase: mechanism of thiamine action. In Walser, M., Williamsen, J. R., eds. Metabolism and Clinical Implications of Branched Chain Amino and Ketoacids. New York, NY: Elsevier/North-Holland; 1981:369.Google Scholar
Naglak, M., Elsas, L. J.Nutrition support of maple syrup urine disease. Metabolic Currents 1989;1(3):15–20.Google Scholar
McCully, K. S.Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis. Am. J. Pathol. 1969;56:111–28.Google ScholarPubMed
Mudd, S. H., Skovby, F., Levy, H. L.et al.The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am. J. Hum. Genet. 1985;37:1–31.Google ScholarPubMed
Fowler, B.Recent advances in the mechanism of pyridoxine-responsive disorders. J. Inherit. Metab. Dis. 1985;8(Suppl. 1):76–83.CrossRefGoogle ScholarPubMed
Andria, G., Fowler, B., Sebastio, G. Disorders of sulfur amino acid metabolism. In Fernandes, J., Saudubray, J.-M., Berghe, G., eds. Inborn Metabolic Diseases: Treatment and Diagnosis. 3rd edn. Berlin: Springer; 2000:228.CrossRefGoogle Scholar
Yaghmai, R., Kashani, A. H., Geraghty, M. T.et al.Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency. Am. J. Med. Genet. 2002;108(1):57–63.CrossRefGoogle Scholar
Gropper, S., Acosta, P. B.Effect of simultaneous ingestion of L-amino acids and whole protein on plasma amino acid concentrations and urea nitrogen in humans. J. Parenter. Enteral Nutr. 1991;15:48–53.CrossRefGoogle ScholarPubMed
Tanaka, K., Budd, M. A., Efron, M. L.et al.Isovaleric acidemia: a new genetic defect of leucine metabolism. Proc. Natl. Acad. Sci. USA 1966;56:236–42.CrossRefGoogle ScholarPubMed
Kreiger, I., Tanaka, K.Therapeutic effects of glycine in isovaleric acidemia. Pediatr. Res. 1976;10:25–9.CrossRefGoogle Scholar
Sousa, C., Chalmers, R. A., Stacey, T. E.et al.The response to L-carnitine and glycine therapy in isovaleric acidaemia. Eur. J. Pediatr. 1986;144:451–6.CrossRefGoogle ScholarPubMed
Tanaka, K., Ikeda, Y. Isovaleric acidemia: clinical manifestations on biochemistry and genetics. In Bickel, H., Wachtel, U., eds. Inherited Diseases of Amino Acid Metabolism. Stuttgart, Federal Republic of Germany: George Thieme; 1985.Google Scholar
Ogier de Baulny, H., Saudubray, J.-M. Branched-chain organic acidurias. In Fernandes, J., , Saudubray J.-M., Berghe, G., eds. Inborn Metabolic Diseases: Treatment and Diagnosis. 3rd edn. Berlin: Springer; 2000:197–207.CrossRefGoogle Scholar
Wolf, B.Reassessment of biotin-responsiveness in “unresponsive” propionyl-CoA carboxylase deficiency. J. Pediatr. 1980;97:964–6.CrossRefGoogle ScholarPubMed
Ampola, M. G., Mahoncy, M. J., Nakamura, E.et al.Prenatal therapy of a patient with vitamin B12-responsive methylmalonic acidemia. N. Engl. J. Med. 1975;293:313–17.CrossRefGoogle ScholarPubMed
Specker, B. L., Miller, D., Norman, E. J.et al.Increased urinary methylmalonic acid excretion in breast-fed infants of vegetarian mothers and identification of an acceptable dietary source of vitamin B12. Am. J. Clin. Nutr. 1988;47:89–92.CrossRefGoogle Scholar
Higginbottom, M. C., Sweetman, L., Nyhan, W. L.A syndrome of methylmalonic aciduria, homocystinuria, megabolastic anemia and neurologic abnormalities in a vitamin B12 deficient breast-fed infant of a strict vegetarian. N. Engl. J. Med. 1978;299:317–23.CrossRefGoogle Scholar
Ney, D., Bay, C., Sandubray, J. M.et al.An evaluation of protein requirements in methyl-malonic acidemia. J. Inherit. Metab. Dis. 1985;8:132–42.CrossRefGoogle Scholar
Wolff, J. A., Sweetman, L., Nyhan, W. D.The role of lipid in the management of methylmalonic acidaemia: administration of linoleic acid does not increase excretion of methylmalonic acid. J. Inherit. Metab. Dis. 1985;8:100.CrossRefGoogle Scholar
Hyman, S. L., Porter, C. A., Page, T. J.et al.Behavior management of feeding disturbances in urea cycle and organic acid disorders. J. Pediatr. 1987;111(4):558–62.CrossRefGoogle ScholarPubMed
DiDonato, S., Rimoldi, M., Garavaglia, B.et al.Propionyl-carnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency. Clin. Chim. Acta. 1984;139:13–21.CrossRefGoogle Scholar
Chalmers, R. A., Stacy, T. E., Tracey, B. M.et al.L-carnitine insufficiency in disorders of organic acid metabolism: response to L-carnitine by patients with methylmalonic acidemia and 3-hydroxy-3-methyl-glutaric acidemia. J. Inherit. Metab. Dis. 1984;7(Suppl. 2):108–10.Google Scholar
Nyhan, W. L., Ozand, P. T.Atlas of Metabolic Diseases. London: Chapman and Hall Medical; 1998.Google Scholar
Hoffmann, G. F. Disorders of lysine catabolism and related cerebral organic-acid disorders. In Fernandes, J., Saudubray, J.-M., Berghe, G., eds. Inborn Metabolic Diseases: Treatment and Diagnosis. 3rd edn. Berlin: Springer; 2000:245–50.CrossRefGoogle Scholar
Bachmann, C.Mechanisms of hyperammonemia. Clin. Chem. Lab. Med. 2002;40(7):653–62.CrossRefGoogle ScholarPubMed
Colombo, J. P.Urea cycle disorders, hyperammonemia and neurotransmitter changes. Enzyme 1987;38(1–4):214–19.CrossRefGoogle ScholarPubMed
Batshaw, M. L., Thomas, G. H., Brusilow, S. W.New approaches to the diagnosis and treatment of inborn errors of urea synthesis. Pediatrics 1981;68:290–7.Google ScholarPubMed
Brusilow, S., Tinker, J., Batshaw, M. L.Amino acid acylation: a mechanism of nitrogen excretion in inborn errors of urea synthesis. Science 1980;207:659–61.CrossRefGoogle ScholarPubMed
Leonard, J. V. Disorders of the urea cycle. In Fernandes, J., Saudubray, J.-M., Berghe, G., eds. Inborn Metabolic Diseases: Treatment and Diagnosis. 3rd edn. Berlin: Springer; 2000:219.CrossRefGoogle Scholar
Matsuda, I., Ohtani, Y., Ohyanagi, K.et al.Hyperammonemia related to carnitine metabolism with particular emphasis on ornithine transcarbamylase deficiency. Recent advances in inborn errors of metabolism. Proc. 4th Int. Congr., Sendai. Enzyme 1987;38:251–5.CrossRefGoogle Scholar
Ohtani, Y., Ohyanagi, K., Yamamoto, S.et al.Secondary carnitine deficiency in hyperammonemic attacks of ornithine transcarbamylase deficiency. J. Pediatr. 1988;112:404–14.CrossRefGoogle ScholarPubMed
Mori, T., Tsuchiyama, A., Nagai, K.et al.A case of carbamylphosphate synthetase-I deficiency associated with secondary carnitine deficiency – L-carnitine treatment of CPS-I deficiency. Eur. J. Pediatr. 1990;149(4):272–4.CrossRefGoogle ScholarPubMed
Holton, J. B., Walter, J. H., Tyfield, L. A. Galactosemia. In Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., eds. The Metabolic and Molecular Bases of Inherited Disease. 8th edn. New York, NY: McGraw Hill; 2001:1553–87.Google Scholar
Fishler, K., Donnell, G. N., Bergren, W. R.et al.Intellectual and personality development in children with galactosemia. Pediatrics 1972;50:412–19.Google ScholarPubMed
Schwarz, H. P., Zuppinger, K. A., Zimmerman, A.et al.Galactose intolerance with double heterozygosity for duarte variant and galactosemia. J. Pediatr. 1982;100:704–9.CrossRefGoogle ScholarPubMed
Wiesmann, U. N., Rose-Beutler, B., Schluchter, R.Leguminosae in the diet: the raffinose-stachyose question. Eur. J. Pediatr. 1995;154:S93.CrossRefGoogle ScholarPubMed
Kowrower, G. M.Galactosemia: thirty years on: the experience of a generation. J. Inherit. Metab. Dis. 1982;5(Suppl. 2):96–104.CrossRefGoogle Scholar
Gitzelmann, R. Disorders of galactose metabolism. In Fernandes, J., Saudubray, J.-M., Berghe, G., eds. Inborn Metabolic Diseases: Treatment and Diagnosis. 3rd edn. Berlin: Springer; 2000:105.CrossRefGoogle Scholar
Veiga-da-Cunha, M., Gerin, I., Schaftingen, E.How many forms of glycogen storage disease type I?Eur. J. Pediatr. 2000;159(5):314–18.CrossRefGoogle ScholarPubMed
Veiga-da-Cunha, M., Gerin, I., Chen, Y. T.et al.The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. Eur. J. Hum. Genet. 1999;7(6):717–23.CrossRefGoogle ScholarPubMed
Fernandes, J., Smit, G. P. A. The glycogen-storage diseases. In Fernandes, J., Saudubray, J.-M., Berghe, G., eds. Inborn Metabolic Diseases: Treatment and Diagnosis. 3rd edn. Berlin: Springer; 2000:87–101.CrossRefGoogle Scholar
Acosta, P. B., Yannicelli, S.The Ross Metabolic Formula System Nutrition Support Protocols. 4th edn. Columbus, Ohio: Abbott Laboratories; 2001.Google Scholar
Thomas, J. A., Bernstein, L. E., Greene, C. L., Koeller, D. M.Apparent decreased energy requirements in children with organic acidemias: preliminary observations. J. Am. Diet Assoc. 2000;100(9):1074–6.CrossRefGoogle ScholarPubMed
Hartz, L., Pettis, K., Calcar, S.Understanding Galactosemia: A Diet Guide. 2nd edn. Madison, WI: Biochemical Genetics Program, University of Wisconsin; 2000.Google Scholar

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