Investigation of the child with an acute metabolic disorder

Journal of Clinical Pathology

Volumn 64, Issue 3, 2011, Pages 181-191

  Cook, P ^a   Walker, Valerie ^a  

^a SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; AMMONIA; CREATINE; GLUCOSE TRANSPORTER 1; LACTIC ACID; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; NEUROTRANSMITTER; PHOSPHOGLYCERATE DEHYDROGENASE; PYRIDOXINE; PYRUVIC ACID; SULFITE OXIDASE;

ACUTE DISEASE; ANION GAP; BLOOD CHEMISTRY; BLOOD GAS ANALYSIS; CEREBROSPINAL FLUID ANALYSIS; CHILD; DISORDERS OF PEROXISOMAL FUNCTIONS; DYING; ENZYME DEFICIENCY; FATTY ACID OXIDATION; GALACTOSEMIA; GENETIC COUNSELING; GLYCOGEN STORAGE DISEASE; HUMAN; HYPERGLYCINEMIA; HYPERINSULINISM; HYPOGLYCEMIA; HYPOMAGNESEMIA; INFANCY; INSULINOMA; INTRACTABLE EPILEPSY; KETOACIDOSIS; LACTIC ACIDOSIS; LIVER BIOPSY; LUMBAR PUNCTURE; LYSOSOME STORAGE DISEASE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; METABOLIC ACIDOSIS; METABOLIC ENCEPHALOPATHY; MORBIDITY; MORTALITY; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RESPIRATORY CHAIN; REVIEW; SEIZURE; SKIN BIOPSY; SULFITE OXIDASE DEFICIENCY; TEST STRIP; UREA CYCLE DISORDER; URINALYSIS;

ACIDOSIS; ACUTE DISEASE; BRAIN DISEASES, METABOLIC; CHILD; CHILD, PRESCHOOL; GLYCOGEN STORAGE DISEASE; HUMANS; HYPOGLYCEMIA; INFANT; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; METABOLISM, INBORN ERRORS; OXIDATION-REDUCTION; PERSISTENT HYPERINSULINEMIA HYPOGLYCEMIA OF INFANCY; SEIZURES;

EID: 79951951211     PISSN: 00219746     EISSN: 14724146     Source Type: Journal    
DOI: 10.1136/jcp.2009.067884     Document Type: Review

References (82)

1. Chakrapani A, Cleary MA, Wraith JE. Detection of inborn errors in the newborn. Arch Dis Child Fetal Neonatal Ed 2001;84:F205-10.
2. Walter JH. Investigation and initial management of suspected metabolic disease. Current Pediatrics 2002;12:110-16. (Pubitemid 34193803)
3. Saudubray JM, Desguerre I, Sedel F, et al. A clinical approach to inherited metabolic diseases. In: Fernandes J, Saudubray JM, van den Berghe G, et al, eds. Inborn Metabolic Diseases. 4th edn. Würzburg: Springer Medizin Verlag Heidelberg, 2006:3-48.
4. National Metabolic Biochemistry Network. Best practice guidelines: http://www.metbio.net (accessed 30 Dec 2010).
5. British Inherited Metabolic Disease Group. Guidelines. http://www.bimdg.org.uk.asp (accessed 30 Dec 2010).
6. Scriver CR, Beaudet AL, Sly WS, et al, eds. The metabolic and molecular bases of inherited disease. 8th edn. New York: McGraw-Hill, 2001.
7. Fernandes J, Saudubray JM, van den Berghe G, et al, eds. Inborn metabolic diseases. 4th edn. Würzburg: Springer Medizin Verlag Heidelberg, 2006.
8. Valle D, Beaudet AL, Vogelstein, et al, eds. the online metabolic and molecular bases of inherited disease: McGraw-Hill. http://www.ommbid.com (accessed 30 Dec 2010).
9. Williams AF. Hypoglycaemia of the newborn - review of the literature. Geneva: WHO, 1997.
10. Hawdon J. Disorders of blood glucose homeostasis in the neonate. In: Rennie JM, ed. Roberton's textbook of neonatology. 4th edn. Printed in China: Elsevier Churchill Livingstone, 2005:851-68.
11. Sperling MA. Hypoglycemia. In: Kliegman RM, Behrman RE, Jenson HB, et al, eds. Nelson textbook of pediatrics. 18th edn. Philadelphia PA: Saunders Elsevier, 2007:655-69.
12. Aynsley-Green A. Glucose: a fuel for thought! J Paediatrics Child Health 1991;27:21-30.
13. Bier DM, Leake RD, Haymond MW, et al. Measurement of 'true' glucose production rates in infancy and childhood with 6, 6-dideuteroglucose. Diabetes 1977;26:1016-23.
14. Bougneres PF. Stable isotope tracers and the determination of fuel fluxes in newborn infants. Biol Neonate 1987;52(Suppl.1):87-96. (Pubitemid 18040801)
15. Ferry RJ, Kwok-Chun Chan K. Hyperinsulinemia 2010. http://www.emedicine. com/PED/topic1075.htm (accessed 30 Dec 2010).
16. Aynsley-Green A, Hussain K, Hall J, et al. Practical management of hyperinsulinism in infancy. Arch Dis Child Fetal Neonatal Ed 2000;82:F98-F107. (Pubitemid 30305748)
17. James C, Kapoor RR, Ismail D, et al. The genetic basis of congenital hyperinsulinism. J Med Genet 2009;46:289-99.
18. Arnoux JB, de Lonlay P, Ribeiro MJ, et al. Congenital hyperinsulinism. Early Hum Dev 2010;86:287-94.
19. Wanders RJ, Vreken P, den Boer ME, et al. Disorders of mitochondrial fatty acyleCoA b-oxidation. J Inherit Metab Dis 1999;4:442-87. (Pubitemid 29281036)
20. Rinaldo P, Matern D, Bennett MJ. Fatty acid oxidation disorders. Annu Rev Physiol 2002;64:477-502. (Pubitemid 34259237)
21. Longo N, di San Filippo CA, Pasquali M. Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet 2006;142C:77-85.
22. Shin YS. Diagnosis of glycogen storage disease. J Inher Metab Dis 1990;13:419-34. (Pubitemid 20374448)
23. Maire I, Baussan C, Moatti N, et al. Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience. Clin Biochem 1991;24:169-78.
24. Sroppiano M, Regis S, DiRocco M, et al. Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type 1a. J Inher Metab Dis 1999;22:43-9. (Pubitemid 29078130)
25. Losty H. National metabolic biochemistry network: guidelines for investigation of hypoglycaemia in infants and children 2004. http://www.metbio.net (accessed 30 Dec 2010).
26. Lang TF, Cardy D, Carson D, et al. Audit of acute hypoglycaemia in children: re-audit of procedures for diagnosis. Ann Clin Biochem 2008;45:486-8.
27. Pruden EL, Siggaard-Andersen O, Tietz NW. Blood gases and pH. In: Burtis CA, Ashwood ER, eds. Tietz textbook of clinical chemistry. 2nd edn. Philadelphia, USA: WB Saunders, 1994:1375-448.
28. De Meirleir LJ, Van Coster R, Lissens W. Disorders of pyruvate metabolism and the tricarboxylic acid cycle. In: Saudubray JM, van den Berghe G, Walter JH, eds. Inborn metabolic diseases. 4th edn. Heidelberg: Springer Medizin Verlag, 2006:163-74.
29. Cohen BH, Gold DR. Mitochondrial cytopathy in adults: what we know so far. Cleveland Clinic J Med 2001;68:625-42. (Pubitemid 32634614)
30. Zeviani M, Di Donato S. Mitochondrial disorders. Brain 2004;127:2153-72. (Pubitemid 39382225)
31. Spinazzola A, Invernizzi F, Carrara F, et al. Clinical and molecular features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis 2009;32:1432-58.
32. Walker V. Inherited Biochemical Disorders. In: Hall M, Noble A, Smith S, eds. A Foundation For Neonatal Care: A Multi-Disciplinary Guide. Oxford: Radcliffe Publishing, 2009:69-88.
33. Morris AAM. Disorders of ketogenesis and ketolysis. In: Saudubray JM, van den Berghe G, Walter JH, eds. Inborn metabolic diseases. 4th edn. Heidelberg: Springer Medizin Verlag, 2006:191-6.
34. Wraith JE. Inborn errors of metabolism in the neonate. In: Rennie JM, ed. Roberton's textbook of neonatology. 4th edn. Printed in China: Elsevier Churchill Livingstone, 2005:907-21.
35. Wendel U, Ogier de Baulny H. Branched-chain organic acidurias/acidemias. In: Saudubray JM, van den Berghe G, Walter JH, eds. Inborn metabolic diseases. 4th edn. Heidelberg: Springer Medizin Verlag, 2006:245-62.
36. Salbert BA, Pellock JM, Wolf B. Characterization of seizures associated with biotinidase deficiency. Neurology 1993;43:1351-5. (Pubitemid 23213808)
37. Wolf NI, Garcia-Cazorla A, Hoffmann GF. Epilepsy and inborn errors of metabolism in children. J Inherit Metab Dis 2009;32:609-17.
38. Fowler B, Leonard JV, Baumgartner MR. Causes of and diagnostic approach to methylmalonic acidurias. J Inherit Metab Dis 2008;31:350-60. (Pubitemid 351877788)
39. Morris AAM, Hoffmann GF, Naughten ER, et al. Glutaric aciduria and suspected child abuse. Arch Dis Child 1999;80:404-5. (Pubitemid 29220171)
40. Kölker S, Christensen E, Leonard JV, et al. Guidelines for the diagnosis and management of glutaryleCoA dehydrogenase deficiency (glutaric aciduria type 1). J Inherit Metab Dis 2007;30:5-22. (Pubitemid 46140220)
41. Hartley LM, Khwaja OS, Verity CM. Glutaric aciduria type1 and nonaccidental head injury. Pediatrics 2001;107:174-5.
42. Bowker R, Stephenson T, Atkinson M, et al. The paediatric accident and emergency research group. Evidence-based guideline for the management of decreased conscious level in children 2006. http://www.nottingham.ac.uk/ paediatric-guideline (accessed 30 Dec 2010).
43. Bowker R, Green A, Bonham JR. Guidelines for the investigations and management of a reduced level of consciousness in children: implications for clinical biochemistry laboratories. Ann Clin Biochem 2007;44:506-11. (Pubitemid 351724632)
44. Walker V. Ammonia toxicity and its prevention in inherited defects of the urea cycle. Diabetes, Obes Metab 2009;11:823-35.
45. Segal S. Galactosaemia today: the enigma and the challenge. J Inherit Metab Dis 1998;21:455-71.
46. Pearl PL, Gibson KM, Acosta MT, et al. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology 2003;60:1413-17. (Pubitemid 36554798)
47. Pearl PL, Gibson KM, Cortez MA, et al. Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. J Inherit Metab Dis 2009;32:343-52.
48. Van den Berghe G, Vincent MF, Jaeken J. Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency. J Inherit Metab Dis 1997;20:193-202. (Pubitemid 27273483)
49. Van Gennip AH, Abeling NGGM, Vreken P, et al. Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects. J Inherit Metab Dis 1997;20:203-13. (Pubitemid 27273484)
50. Leonard J, Grünewald S, Clayton P. Diversity of congenital disorders of glycosylation. Lancet 2001;357:1382-3. (Pubitemid 32455361)
51. Jaeken J. Komrower lecture: congenital disorders of glycosylation (CDG): it's all in it! J Inherit Metab Dis 2003;26:99-118. (Pubitemid 36889736)
52. Marquardt T, Denecke J. Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. Eur J Pediatr 2003;162:359-79. (Pubitemid 36693736)
53. Kaler SG, Liew CJ, Donsante A, et al. Molecular correlates of epilepsy in early diagnosed and treated Menkes disease. J Inherit Metab Dis 2010;33:583-9.
54. Wolf NI, Bast T, Surtees R. Epilepsy in inborn errors of metabolism. Epilept Disord 2005;7:67-81. (Pubitemid 40825309)
55. Surtees R, Wolf N. Treatable neonatal epilepsy. Arch Dis Child 2007;92:659-61. (Pubitemid 47217120)
56. Pearl PL. New treatment paradigms in neonatal metabolic epilepsies. J Inherit Metab Dis 2009;32:204-13.
57. Clayton PT. B6-responsive disorders: a model of vitamin dependency. J Inherit Metab Dis 2006;29:317-26. (Pubitemid 43880627)
58. Mills PB, Struys E, Jakobs C, et al. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med 2006;12:307-9. (Pubitemid 43355078)
59. Bok LA, Struys E, Willemsen MA, et al. Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels. Arch Dis Child 2007;92:687-9. (Pubitemid 47217128)
60. Mills PB, Surtees RA, Champion MP, et al. Neonatal encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase. Hum Mol Genet 2005;14:1077-86. (Pubitemid 40575883)
61. Hoffmann G, Schmitt B, Windfuhr M, et al. Pyridoxal 5′-phosphate may be curative in early-onset epileptic encephalopathy. J Inherit Metab Dis 2007;30:96-9. (Pubitemid 46140231)
62. Hoffman GF, Surtees RAH, Wevers RA. Cerebrospinal investigations for neurometabolic disorders. Neuropediatrics 1998;29:59-71.
63. Pons R, Ford B, Chiriboga CA, et al. Aromatic L-amino acid decarboxylase deficiency clinical features, treatment, and prognosis. Neurology 2004;62:1058-65. (Pubitemid 38456497)
64. Longo N. Disorders of biopterin metabolism. J Inherit Metab Dis 2009;32:33-42.
65. Manegold C, Hoffmann GF, Gegen H, et al. Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up. J Inherit Metab Dis 2009;32:371-80.
66. Stockler S, Schutz PW, Salomons GS. Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. Subcell Biochem 2007;46:149-66.
67. Seidner G, Alvarez MG, Yeh JI, et al. GLUT-1 deficiency syndrome caused by haploinsufficiency of the bloodebrain barrier hexose carrier. Nat Genet 1998;18:188-91. (Pubitemid 28082472)
68. De Koning TJ. Treatment with amino acids in serine deficiency disorders. J Inherit Metab Dis 2006;29:343-52.
69. Shalev H, Phillip M, Galil A, et al. Clinical presentation and outcome in primary familial hypomagnesaemia. Arch Dis Child 1998;78:127-30. (Pubitemid 28136194)
70. Kantorovitch V, Adams JS, Gaines JE, et al. Genetic heterogeneity in familial renal magnesium wasting. J Clin Endocrinol Metab 2002;87:612-17. (Pubitemid 34158226)
71. Rupar CA, Gillett J, Gordon BA, et al. Isolated sulfite oxidase deficiency. Neuropediatrics 1996;27:299-304. (Pubitemid 27067358)
72. Veldman A, Santamaria-Araujo JA, Sollazzo S, et al. Successful treatment of molybdenum cofactor deficiency type A with Cpmp. Pediatrics 2010;125:e1249-54.
73. Wanders RJA. Metabolic and molecular basis of peroxisomal disorders: a review. Am J Med Genet 2004;126A:355-75. (Pubitemid 38541804)
74. Schrader M. The peroxisome: still a mysterious organelle. Biochim Biophys Acta 2008;1763:1707-20.
75. Wanders RJ, Waterman HR. Peroxisome biogenesis disorders. Clin Genet 2005;67:107-33.
76. Wraith JE. Lysosomal disorders. Semin Neonatol 2002;7:75-83. (Pubitemid 34742221)
77. Velodi A. Lysosomal storage disorders. Br J Haematol 2004;128:413-31.
78. Cleary MA, Wraith JE. Management of mucopolysaccharidosis type 111. Arch Dis Child 1993;69:403-6.
79. Meikle PJ, Fietz MJ, Hopwood JJ. Diagnosis of lysosomal storage disorders: current techniques and future directions. Expert Rev Mol Diagn 2004;4:677-91. (Pubitemid 39220841)
80. Staretz-Chacham O, Lang TC, LeMarca ME, et al. Lysosomal storage disorders in the newborn. Pediatrics 2009;123:1191-207.
81. Haltia M. The neuronal ceroid lipofuscinoses: from past to present. Biochim Biophys Acta 2006;1762:850-6. (Pubitemid 44740121)
82. Carragher FM, Bonham JR, Smith JM. Pitfalls in the measurements of some intermediary metabolites. Ann Clin Biochem 2003;40:313-20. (Pubitemid 36819550)