Skip to main content
SpringerLink
Log in
Book cover

Inherited Metabolic Diseases pp 283–303Cite as

Enzymes, Metabolic Pathways, Flux Control Analysis, and the Enzymology of Specific Groups of Inherited Metabolic Diseases

  • Chapter

This is a preview of subscription content, log in via an institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   119.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

Key References

  • Acin-Perez R, Fernandez-Silva P, Peleato ML et al (2008) Respiratory active mitochondrial supercomplexes. Mol Cell 32:529–539

    Article  PubMed  CAS  Google Scholar 

  • Bezman L, Moser AB, Raymond GV et al (2001) Adre-noleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol 49:512–517

    Article  PubMed  CAS  Google Scholar 

  • Brivet M, Garcia-Cazorla A, Lyonnet S et al (2003) Impaired mitochondrial pyruvate importation in a patient and a fetus at risk. Mol Genet Metab 78:186–192

    Article  PubMed  CAS  Google Scholar 

  • Chinnery PF, Zeviani M (2008) Polymerase gamma and disorders of mitochondrial DNA synthesis. Neuromuscul Disord 18:259–267

    Article  PubMed  Google Scholar 

  • Danpure CJ, Purdue PE, Fryer P et al (1993) Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxi-somal aggregation. Am J Hum Genet 53:417–432

    PubMed  CAS  Google Scholar 

  • Dierks T, Dickmanns A, Preusser-Kunze A et al (2005) Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-gen-erating enzyme. Cell 121:541–552

    Article  PubMed  CAS  Google Scholar 

  • Eaton S (2002) Control of mitochondrial beta-oxidation flux. Prog Lipid Res 41:197–239

    Article  PubMed  CAS  Google Scholar 

  • Ebberink MS, Mooyer PA, Koster J et al (2009) Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines. Hum Mutat 30:93–98

    Article  PubMed  CAS  Google Scholar 

  • Ferdinandusse S, Denis S, Hogenhout EM et al (2007) Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency. Hum Mutat 28:904–912

    Article  PubMed  CAS  Google Scholar 

  • Ferdinandusse S, Denis S, Mooyer PA et al (2006a) Clinical and biochemical spectrum of D-bifunctional protein deficiency. Ann Neurol 59:92–104

    Article  Google Scholar 

  • Ferdinandusse S, Kostopoulos P, Denis S et al (2006b) Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. Am J Hum Genet 78:1046–1052

    Article  CAS  Google Scholar 

  • Groen AK, Van der Meer R, Westerhoff HV et al (1982b) Control of metabolic fluxes. In: Sies H (ed) Metabolic com-partmentation. Academic Press, New York, London

    Google Scholar 

  • Groen AK, van Roermund CWT, Vervoorn RC, Tager JM (1986) Control of gluconeogenesis in rat liver cells. Flux control coef-ficients of the enzymes in the gluconeogenic pathway in the absence and presence of glucagon. Biochem J 237:379–389

    PubMed  CAS  Google Scholar 

  • Groen AK, Wanders RJA, Westerhoff HV et al (1982a) Quan-tification of the contribution of various steps to the control of mitochondrial respiration. J Biol Chem 257:2754–2757

    CAS  Google Scholar 

  • Heinrich R, Rapoport SM, Rapoport TA (1977) Metabolic regulation and mathematical models. Prog Biophys Mol Biol 32:1–82

    Article  PubMed  CAS  Google Scholar 

  • Higgins JJ (1965) Metabolic flux analysis. In: Chance B, Estabrook RW, Williamson JR (eds) Control of energy metabolism. Academic Press, New York, London

    Google Scholar 

  • Hoefs SJ, Dieteren CE, Distelmaier F et al (2008) NDUFA2 complex I mutation leads to Leigh disease. Am J Hum Genet 82:1306–1315

    Article  PubMed  CAS  Google Scholar 

  • Horn MA, van den Brink DM, Wanders RJA et al (2007) Phenotype of adult Refsum disease due to a defect in per-oxin 7. Neurology 68:698–700

    Article  PubMed  CAS  Google Scholar 

  • Janssen AJ, Schuelke M, Smeitink JAM et al (2008) Muscle 3243A→ G mutation load and capacity of the mitochondrial energy-generating system. Ann Neurol 63:473–481

    Article  PubMed  CAS  Google Scholar 

  • Janssen AJ, Trijbels FJ, Sengers RC et al (2006) Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology. Clin Chem 52:860–871

    Article  PubMed  CAS  Google Scholar 

  • Kacser H, Burns JA (1979) Molecular democracy: who shares the controls? Biochem Soc Trans 7:1149–1160

    PubMed  CAS  Google Scholar 

  • Kacser H, Burns JA (1981) The molecular basis of dominance. Genetics 97:639–666

    PubMed  CAS  Google Scholar 

  • Kolter T, Sandhoff K (2005) Principles of lysosomal membrane digestion: stimulation of sphingolipid degradation by sphin-golipid activator proteins and anionic lysosomal lipids. Annu Rev Cell Dev Biol 21:81–103

    Article  PubMed  CAS  Google Scholar 

  • Kornfeld S (1987) Trafficking of lysosomal enzymes. FASEB J 1:462–468

    PubMed  CAS  Google Scholar 

  • Leinekugel P, Michel S, Conzelmann E, Sandhoff K (1992) Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease. Hum Genet 88:513–523

    Article  PubMed  CAS  Google Scholar 

  • Lukacs Z (2008) Mucopolysaccharides. In: Blau N, Duran M, Gibson KM (eds) Laboratory guide to the methods in biochemical genetics. Springer, Berlin

    Google Scholar 

  • Mayr JA, Merkel O, Kohlwein SD et al (2007) Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. Am J Hum Genet 80:478–484

    Article  PubMed  CAS  Google Scholar 

  • Molinari F, Raas-Rothschild A, Rio M et al (2005) Impaired mitochondrial glutamate transport in autosomal recessive-neonatal myoclonic epilepsy. Am J Hum Genet 76:334–339

    Article  PubMed  CAS  Google Scholar 

  • Motley AM, Brites P, Gerez L et al (2002) Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. Am J Hum Genet 70:612–624

    Article  PubMed  CAS  Google Scholar 

  • Nada MA, Rhead WJ, Sprecher H Clark S (1995) Evidence for intermediate channeling in mitochondrial beta-oxidation. J Biol Chem 270:530–535

    Article  PubMed  CAS  Google Scholar 

  • Olpin SE, Manning NJ, Pollitt RJ, Clarke S (1997) Improved detection of long-chain fatty acid oxidation defects in intact cells using [9,10-3H]oleic acid. J Inherit Metab Dis 20:415–419

    Article  PubMed  CAS  Google Scholar 

  • Platta HW, Erdmann R (2007) The peroxisomal protein import machinery. FEBS Lett 581:2811–2819

    Article  PubMed  CAS  Google Scholar 

  • Poorthuis BJHM, Aerts JMFG (2008) Glycosphingolipids. In: Blau N, Duran M, Gibson MK (eds) Laboratory guide to the methods in biochemical genetics. Springer, Berlin

    Google Scholar 

  • Pulkes T, Sweeney MG, Hanna MG (2000) Increased risk of stroke in patients with the A12308G polymorphism in mitochondria. Lancet 356:2068–2069

    Article  PubMed  CAS  Google Scholar 

  • Rinaldo P, Matern D, Bennett MJ (2002) Fatty acid oxidation disorders. Annu Rev Physiol 64:477–502

    Article  PubMed  CAS  Google Scholar 

  • Sewell A (2008) Oligosaccharides. In: Blau N (ed) Laboratory guide to the methods in biochemical genetics. Springer, Berlin

    Google Scholar 

  • van den Brink DM, Brites P, Haasjes J et al (2003) Identification of PEX7 as the second gene involved in Refsum disease. Am J Hum Genet 72:471–477

    Article  PubMed  Google Scholar 

  • van Woerden CS, Groothoff JW, Wijburg FA et al (2004) Clinical implications of mutation analysis in primary hyperoxaluria type 1. Kidney Int 66:746–752

    Article  PubMed  Google Scholar 

  • Ventura FV, Costa CG, Struys EA et al (1999) Quantitative acyl-carnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects. Clin Chim Acta 281:1–17

    Article  PubMed  CAS  Google Scholar 

  • Verheijen FW (2008) Sialic acid. In: Blau N, Duran M, Gibson KM (eds) Laboratory guide to the methods in biochemical genetics. Springer, Berlin

    Google Scholar 

  • Vockley J (2008) Metabolism as a complex genetic trait, a systems biology approach: implications for inborn errors of metabolism and clinical diseases. J Inherit Metab Dis 31:619–629

    Article  PubMed  CAS  Google Scholar 

  • Walkley SU (2001) New proteins from old diseases provide novel insights in cell biology. Curr Opin Neurol 14:805–810

    Article  PubMed  CAS  Google Scholar 

  • Wanders RJA (2004) Metabolic and molecular basis of peroxi-somal disorders: a review. Am J Med Genet 126A: 355–375

    Article  PubMed  Google Scholar 

  • Wanders RJA, van Roermund CWT, Meijer AJ (1984) Analysis of the control of citrulline synthesis in isolated rat-liver mitochondria. Eur J Biochem 142:247–254

    Article  PubMed  CAS  Google Scholar 

  • Wanders RJA, Waterham HR (2006) Biochemistry of mammalian peroxisomes revisited. Annu Rev Biochem 75:295–332

    Article  PubMed  CAS  Google Scholar 

  • Weller S, Gould SJ, Valle D (2003) Peroxisome biogenesis disorders. Annu Rev Genomics Hum Genet 4:165–211

    Article  PubMed  CAS  Google Scholar 

  • Wittig I, Carrozzo R, Santorelli FM, Schagger (2006) Supercomplexes and subcomplexes of mitochondrial oxidative phosphorylation. Biochim Biophys Acta 1757:1066–1072

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Laboratory of Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam, AZ, 1105, The Netherlands

    Ronald J. A. Wanders

  2. Department of Medical Biochemistry, K1-252, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, Amsterdam, AZ, 1105, The Netherlands

    Ben J. H. M. Poorthuis

  3. Laboratory for Pediatrics and Neurology, University Medical Centre St Radboud, Nijmegen, The Netherlands

    Richard J. T. Rodenburg

Authors
  1. Ronald J. A. Wanders
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Ben J. H. M. Poorthuis
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Richard J. T. Rodenburg
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Ronald J. A. Wanders .

Editor information

Editors and Affiliations

  1. University Children's Hospital, Ruprecht-Karls-University, Im Neuenheimer Feld 430, Heidelberg, 69120, Germany

    Georg F. Hoffmann

  2. Divisions of Human Genetics and Clinical Genetics, Medical University Innsbruck, Schöpfstr. 41, Innsbruck, 6020, Austria

    Johannes Zschocke (Professor of Human Genetics) (Professor of Human Genetics)

  3. San Diego School of Medicine, Department of Pediatrics, University of California, 9500 Gilman Drive, La Jolla, CA, 92093, USA

    William L. Nyhan

Rights and permissions

Reprints and permissions

Copyright information

© 2010 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Wanders, R.J.A., Poorthuis, B.J.H.M., Rodenburg, R.J.T. (2010). Enzymes, Metabolic Pathways, Flux Control Analysis, and the Enzymology of Specific Groups of Inherited Metabolic Diseases. In: Hoffmann, G.F., Zschocke, J., Nyhan, W.L. (eds) Inherited Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-74723-9_29

Download citation

  • DOI: https://doi.org/10.1007/978-3-540-74723-9_29

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-74722-2

  • Online ISBN: 978-3-540-74723-9

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation