Seminars in Pediatric Neurology
Volume 15, Issue 3 , Pages 127-131 , September 2008

Inherited Metabolic Diseases in Neurodevelopmental and Neurobehavioral Disorders

  • Michael A. Kayser, DO, FACMG

      Affiliations

    • Corresponding Author InformationAddress reprint requests to Michael A. Kayser, DO, FACMG, Warren Clinic Center for Genetics, Center for Genetic Testing at Saint Francis, 6465 South Yale Avenue, Suite 1015, Tulsa, OK 74136

References 

  1. Stockler S, Holzbah U, Hanefeld F, et al. Creatine deficiency in the brain: A new, treatable inborn error of metabolism. Pediatr Res. 1994;36:409–413
  2. Stockler S, Marescau B, De Deyn PP, et al. Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis. Metabolism. 1997;46:1189–1193
  3. Von Figura K, Hanefeld F, Isdrandt D, et al. Guanidinoacetate Methyltransferase Deficiency (The Metabolic and Moleculaar Basis of Inherited Diseases). In: New York, NY: McGraw-Hill; 2001;p. 1897–1908
  4. Wevers RA, Engelke U, Wendel U, et al. Standardized method for high-resolution 1H-NMR of cerebrospinal fluid. Clin Chem. 1995;41:744–751
  5. Frahm J, Hanefeld F. Localized proton magnetic resonance spectroscopy of cerebral metabolites. Neuropediatrics. 1996;27:64–69
  6. Jenne DE, Olsen AS, Zimmer M. The human guanidinoacetate methyltransferase (GAMT) gene maps to a syntenic region on 19p13.3, homologous to band C of mouse chromosome 10, but GAMT is not mutated in jittery mice. Biochem Biophys Res Commun. 1997;238:723–727
  7. Stockler S, Isbrandt D, Hanefeld F, et al. Guanidinoacetate methyltransferase deficiency: The first inborn error of creatine metabolism in man. Am J Hum Genet. 1996;58:914–922
  8. Caldeira Araujo H, Smith W, Verhoeven NM, et al. Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. Am J Med Genet A. 2005;133:122–127
  9. Lion-Francois L, Cheillan D, Pitelet G, et al. High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. Neurology. 2006;67:1713–1714
  10. Zugno AI, Pereira LO, Mattos C, et al. Guanidinoacetate administration increases acetylcholinesterase activity in striatum of rats and impairs retention of an inhibitory avoidance task. Metab Brain Dis. 2008;23:189–198
  11. Schulze A, Hess T, Wevers R, et al. Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: Diagnostic tools for a new inborn error of metabolism. J Pediatr. 1997;131:626–631
  12. Ganesan V, Johnson A, Connelly A, et al. Guanidinoacetate methyltransferase deficiency: New clinical features. Pediatr Neurol. 1997;17:155–157
  13. Verbruggen KT, Sijens PE, Schulze A, et al. Successful treatment of a guanidinoacetate methyltransferase deficient patient: Findings with relevance to treatment strategy and pathophysiology. Mol Genet Metab. 2007;91:294–296
  14. Jakobs C, Bojasch M, Monch E, et al. Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities (The probability of a new inborn error of metabolism). Clin Chim Acta. 1981;111:169–178
  15. Chambliss KL, Hinson DD, Trettel F, et al. Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). Am J Hum Genet. 1998;63:399–408
  16. Jakobs C, Michael T, Jaeger E, et al. Further evaluation of Vigabatrin therapy in 4-hydroxybutyric aciduria. Eur J Pediatr. 1992;151:466
  17. Gibson MK, Jakobs C. The Metabolic and Molecular Bases of Inherited Disease. In: New York, NY: McGraw-Hill; 2001;p. 2079–2105
  18. Gibson KM, Aramaki S, Sweetman L, et al. Stable isotope dilution analysis of 4-hydroxybutyric acid: An accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria. Biomed Environ Mass Spectrom. 1990;19:89–93
  19. Van den Berghe G, Jaeken J. The Metabolic and Molecular Bases of Inherited Disease. In: New York, NY: McGraw-Hill; 2001;p. 2653–2662
  20. Jaeken J, Van den Berghe G. An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Lancet. 1984;2:1058–1061
  21. Stone RL, Aimi J, Barshop BA, et al. A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. Nat Genet. 1992;1:59–63
  22. Laikind PK, Seegmiller JE, Gruber HE. Detection of 5′-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: Identification of patients deficient in adenylosuccinate lyase activity. Anal Biochem. 1986;156:81–90
  23. Van den Berghe G, Jaeken J. Adenylosuccinase deficiency. Adv Exp Med Biol. 1986;195:27–33
  24. Jaeken J, Wadman SK, Suran M, et al. Adenylosuccinase deficiency: An inborn error of purine nucleotide synthesis. Eur J Pediatr. 1988;148:126–131
  25. Becker MA, Puig JG, Mateos FA, et al. Inherited superactivity of phosphoribosylpyrophosphate synthetase: Association of uric acid overproduction and sensorineural deafness. Am J Med. 1988;85:383–390
  26. Garcia-Pavia P, Torres RJ, Rivero M, et al. Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman. Arthritis Rheum. 2003;48:2036–2041
  27. Becker MA, Losman MJ, Rosenberg AL, et al. Phosphoribosylpyrophosphate synthetase superactivity (A study of five patients with catalytic defects in the enzyme). Arthritis Rheum. 1986;29:880–888
  28. Becker MA, Taylor W, Smith PR, et al. Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase. J Biol Chem. 1996;271:19894–19899
  29. van Gennip AH, Abeling NG, Vreken P, et al. Inborn errors of pyrimidine degradation: Clinical, biochemical and molecular aspects. J Inherit Metab Dis. 1997;20:203–213
  30. Morrison GB, Bastian A, Dela Rosa T, et al. Dihydropyrimidine dehydrogenase deficiency: A pharmacogenetic defect causing severe adverse reactions to 5-fluorouracil-based chemotherapy. Oncol Nurs Forum. 1997;24:83–88
  31. Gonzalez FJ, Fernandez-Salguero P. Diagnostic analysis, clinical importance and molecular basis of dihydropyrimidine dehydrogenase deficiency. Trends Pharmacol Sci. 1995;16:325–327
  32. van Gennip AH, Abeling NG, Stroomer AE, et al. Clinical and biochemical findings in six patients with pyrimidine degradation defects. J Inherit Metab Dis. 1994;17:130–132
  33. Duran M, Dorland L, Meuleman EE, et al. Inherited defects of purine and pyrimidine metabolism: Laboratory methods for diagnosis. J Inherit Metab Dis. 1997;20:227–236
  34. De Vivo DC, Trifiletti RR, Jacobson RI, et al. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med. 1991;325:703–709
  35. Wang D, Pascual JM, Yang H, et al. Glut-1 deficiency syndrome: Clinical, genetic, and therapeutic aspects. Ann Neurol. 2005;57:111–118
  36. Pascual JM, Wang D, Hinton V, et al. Brain glucose supply and the syndrome of infantile neuroglycopenia. Arch Neurol. 2007;64:507–513
  37. Klepper J, Leiendecker B, Bredahl R, et al. Introduction of a ketogenic diet in young infants. J Inherit Metab Dis. 2002;25:449–460

PII: S1071-9091(08)00049-1

doi: 10.1016/j.spen.2008.05.006

Seminars in Pediatric Neurology
Volume 15, Issue 3 , Pages 127-131 , September 2008