Emergency treatments

Inborn Metabolic Diseases: Diagnosis and Treatment

Volumn , Issue , 2012, Pages 103-111

  Dionisi Vici, Carlo ^a   De Baulny, Hélène Ogier ^b  

^a Division of Metabolism Bambino   (Italy)

^b HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84908134108     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-642-15720-2_5     Document Type: Chapter

References (58)

1. Bodamer OA, Hoffmann GF, Visser GH et al. (1997) Assessment of energy expenditure in metabolic disorders (review). Eur J Pediatr 156 [Suppl 1]:S24-28
2. Feillet F, Bodamer OA, Dixon MA, Sequeira S, Leonard JV (2000) Resting energy expenditure in disorders of propionate metabolism. J Pediatr 136:659-663
3. Nyhan WL, Rice-Kelts M, Klein J, Barshop BA (1998) Treatment of the acute crisis in maple syrup urine disease. Arch Pediatr Adolesc Med 152:593-598
4. Wendel U, Langenbeck U, Lombeck I, Bremer HJ (1982) Maple syrup urine disease – therapeutic use of insulin in catabolic states. Eur J Pediatr 139:172-175
5. Picca S, Bartuli A, Dionisi-Vici C (2008) Medical management and dialysis therapy for the infant with an inborn error of metabolism. Semin Nephrol 28:477-480
6. Picca S, Dionisi-Vici C, Abeni D et al. (2001) Extracorporeal dialysis in neonatal hyperammonaemia: modalities and prognostic indicators. Pediatr Nephrol 16:862-867
7. Ogier de Baulny H (2002) Management and emergency treatments of neonates with a suspicion of an inborn error of metabolism. Semin Neonatol 7:17-26
8. Prietsch V, Lindner M, Zschocke J, Nyhan WL, Hoffmann GF (2002) Emergency management of inherited metabolic diseases. J Inherit Metab Dis 25:531-546
9. Ogier de Baulny H, Benoist JF, Rigal O et al. (2005) Methylmalonic and propionic acidaemias: management and outcome. J Inherit Metab Dis 28:415-423
10. Brusilow SW, Maestri NE (1996) Urea cycle disorders: diagnosis, physiopathology, and therapy. Adv Pediatr 43:127-170
11. Enns GM, Berry SA, Berry GT et al. (2007) Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. N Engl J Med 356: 2282-2292
12. Walter JH, Wraith JE, Cleary MA (1995) Absence of acidosis in the initial presentation of propionic acidaemia. Arch Dis Child Fetal Neonatal Ed 72(3):F197-199
13. Dave P, Curless R, Steinman L (1984) Cerebellar hemorrhage complicating methylmalonic and propionic acidemia. Arch Neurol 41:1293-1296
14. Surtees R, Leonard JV (1989) Acute metabolic encephalopathy: a review of causes, mechanisms and treatment. J Inherit Metab Dis 12 [Suppl 1]:42–54
15. Orban T, Mpofu C, Blackensee D (1994) Severe CNS bleeding followed by a good clinical outcome in the acute neonatal form of isovaleric aciduria. J Inherit Metab Dis 17:755-756
16. Berry GT, Heidenreich R, Kaplan P et al. (1991) Branched-chain amino acid-free parenteral nutrition in the treatment of acute metabolic decompensation in patients with maple syrup urine disease. N Engl J Med 324:175-179
17. Khaler SG, Millington DS, Cederbaum SD et al. (1989) Parenteral nutrition in propionic and methylmalonic acidemia. J Pediatr 115:235-241
18. Parini R, Sereni LP, Bagozzi DC et al. (1993) Nasogastric drip feeding as the only treatment of neonatal maple syrup urine disease. Pediatrics 92:280-283
19. Thompson GN, Francis DE, Halliday D (1991) Acute illness in maple syrup urine disease: dynamics of protein metabolism and implications for management. J Pediatr 119:35-41
20. Ruch T, Kerr D (1982) Decreased essential aminoacid requirements without catabolism in phenylketonuria and maple syrup urine disease. Am J Clin Nutr 35:217-228
21. Biggemann B, Zass R, Wendel U (1993) Postoperative metabolic decompensation in maple syrup urine disease is completely prevented by insulin. J Inherit Metab Dis 16:912-913
22. Leonard JV, Umpleby AM, Naughten EM, Boroujerdy MA, Sonksen PH (1983) Leucine turnover in maple syrup urine disease. J Inherit Metab Dis 6 [Suppl 2]:117-118
23. Feillet F, Leonard JV (1998) Alternative pathway therapy for urea cycle disorders (review). J Inherit Metab Dis 21 [Suppl 1]:101-111
24. Coman D, Yaplito-Lee J, Bonch A (2008) New indications and controversies in arginine therapy. Clin Nutr 27:489-496
25. Griffith AD, Cyr DM, Egan SG, Tremblay GC (1989) Inhibition of pyruvate carboxylase by sequestration of coenzyme A with sodium benzoate. Arch Biochem Biophys 15/269:201-207
26. Kalbag SS, Palekar AG (1988) Sodium benzoate inhibits fatty acid oxidation in rat liver: effect on ammonia levels. Biochem Med Metab Biol 40:133-142
27. Petrowski S, Nyhan WL, Reznik V et al. (1987) Pharmacologic amino acid acylation in the acute hyperammonemia of propionic acidemia. J Neurogenet 4:87-96
28. Filipowicz HR, Ernst SL, Ashurst CL, Pasquali M, Longo N (2006) Metabolic changes associated with hyperammonemia in patients with propionic acidemia. Mol Genet Metab 88:123-130
29. Gebhardt B, Vlaho S, Fischer D et al. (2003) N-Carbamoylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria. Mol Genet Metab 79:303-304
30. Chalmers RA, Roe CR, Stacey TE, Hoppel CL (1984) Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine. Pediatr Res 18:1325-1328
31. Roe CR, Millington DS, Maltby DA, Bohan TP, Hoppel CL (1984) l-Carnitine enhances excretion of propionyl coenzyme A as propionylcarnitine in propionic acidemia. J Clin Invest 73:1785-1788
32. Matern D, Seydewitz HH, Lehnert W et al. (1996) Primary treatment of propionic acidemia complicated by acute thiamine deficiency. J Pediatr 129:758-760
33. Mayatepek E, Schulze A (1999) Metabolic decompensation and lactic acidosis in propionic acidaemia complicated by thiamine deficiency. J Inherit Metab Dis 22:189-190
34. Roe CR, Millington DS, Maltby DA, Kahler SG, Bohan TP (1984) L-Carnitine therapy in isovaleric acidemia. J Clin Invest 74:2290-2295
35. Schaefer F, Straube E, Oh J, Mehls O, Mayatepek E (1999) Dialysis in neonates with inborn errors of metabolism. Nephrol Dial Transplant 14:910-918
36. Jouvet P, Poggi F, Rabier D et al. (1997) Continuous venovenous haemodiafiltration in the acute phase of neonatal maple syrup urine disease. J Inherit Metab Dis 20:463-472
37. Rutledge SL, Havens PL, Haymond MW et al. (1990) Neonatal hemodialysis: effective therapy for the encephalopathy of inborn errors of metabolism. J Pediatr 116:125-128
38. Ring E, Zobel G, Stoeckler S (1990) Clearance of toxic metabolites during therapy for inborn errors of metabolism. J Pediatr 117:349-350
39. Falk MC, Knight JF, Roy LP et al. (1994) Continuous venovenous haemofiltration in the acute treatment of inborn errors of metabolism. Pediatr Nephrol 8:330-333
40. Thompson GN, Butt WW, Shann FA et al. (1991) Continuous venovenous hemofiltration in the management of acute decompensation in inborn errors of metabolism. J Pediatr 118:879-884
41. Summar M, Pietsch J, Deshpande J, Schulman G (1996) Effective hemodialysis and hemofiltration driven by an extracorporeal membrane oxygenation pump in infants with hyperammonemia. J Pediatr 128:379-382
42. Saudubray JM, Ogier H, Charpentier C et al. (1984) Neonatal management of organic acidurias clinical update. J Inherit Metab Dis 7:2-9
43. Donn SM, Swartz RD, Thoene JG (1979) Comparison of exchange transfusion, peritoneal dialysis, and hemodialysis for the treatment of hyperammonemia in an anuric newborn infant. J Pediatr 95:67-70
44. Wendel U, Langenbeck U, Lombeck I, Bremer HJ (1982) Exchange transfusion in acute episodes of maple syrup urine disease: studies on branched-chain amino and keto acids. Eur J Pediatr 138:293-296
45. Goertner L, Leupold D, Pohlandt F, Bartmann P (1989) Peritoneal dialysis in the treatment of metabolic crises caused by inherited disorders of organic and amino acid metabolism. Acta Pediatr Scand 78:706-711
46. Pela I, Seracini D, Donati MA, Lavoratti G, Pasquini E, Materassi M (2008) Peritoneal dialysis in neonates with inborn errors of metabolism: is it really out of date? Pediatr Nephrol 23:163-168
47. Alexander SR (1990) Continuous arteriovenous hemofiltration. In: Levin DL, Morris FC (eds) Essentials of pediatric intensive care. Quality Medical, St Louis, Mo, pp 1022-1048
48. Gouyon JB, Desgres J, Mousson C (1994) Removal of branchedchain amino acids by peritoneal dialysis, continuous arteriovenous hemofiltration, and continuous arteriovenous hemodialysis in rabbits: implications for maple syrup urine disease treatment. Pediatr Res 35:357-361
49. Casadevall I, Ogier H, Germain JF et al. (1992) Hemofiltration arterioveineuse continuee: prise en charge d’un cas de leucinose neonatale. Arch Fr Pediatr 49:803-805
50. Sperl W, Geiger R, Maurer H et al. (1992) Continuous arteriovenous haemofiltration in a neonate with hyperammonaemic coma due to citrullinemia. J Inherit Metab Dis 15:158-159
51. Wiegand C, Thompson T, Bock GH, Mathis RK (1980) The management of life-threatening hyperammonemia: a comparison of several therapeutic modalities. J Pediatr 96:142-144
52. Barkaoui E, Debray D, Habes D, Ogier H, Bernard O (1999) Favorable outcome of treatment with NTBC of acute liver insufficiency disclosing hereditary tyrosinemia type I. Arch Pediatr 6:540-544
53. Nobili V, Jenkner A, Francalanci P, Castellano A et al. (2010) Tyrosinemia type 1: metastatic hepatoblastoma with a favorable outcome. Pediatrics 126: e235-e238
54. Stacpoole PW, Barnes CL, Hurbanis MD, Cannon SL, Kerr DS (1997) Treatment of congenital lactic acidosis with dichloroacetate. Curr Top Arch Dis Child 77:535-541
55. Mochel F, de Lonlay P, Touati G et al. (2005) Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy. Mol Genet Metab 84: 305-312
56. Schmitt B, Baumgartner M, Mills PB et al. (2010) Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine- dependent epilepsy and pyridoxine phosphate oxidase deficiency. Dev Med Child Neurol 52: e133-e142
57. Gallagher RC, Hove v JL, Scharer G et al. (2009) Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Ann Neurol 65: 550-556
58. MacDonald A, Dixon M, White F (2008) Disorders of amino acid metabolism, organic acidemias and urea cylce defects. In: Shaw V, Lawson M (eds) Clinical paediatric dietetics, 3rd edn. Blackwell, Oxford, UK, chap 17