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Laboratory Guide to the Methods in Biochemical Genetics pp 245–251Cite as

Glycerol and Glycerol Phosphates

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Abstract

Disorders of glycerol metabolism include glycerol kinase deficiency and glycerol intolerance syndrome. Glycerol is a neutral, colorless liquid that can be detected in urine and blood. Analysis in urine is done by gas chromatography-mass spectrometry as performed for urine organic acid analysis as long as the sample is not treated with an ion exchange procedure. Glycerol in blood is detected by routine clinical chemistry labs. Alternative methods include an enzymatic based isotope dilution method and commercially available kits. It is important to avoid contaminants from lotions and suppositories. Enzyme activity assays and DNA testing are available although primarily on a research basis.

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References

  1. Dipple KM, McCabe ERB (2003) Disorders of glycerol metabolism. In: Blau N, Duran M, Blaskovics ME, Gibson KM, (eds) Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases. Springer-Verlag, Berlin, pp 369–376

    Google Scholar 

  2. Goodman SI, Markey SP (1981) Diagnosis of Organic Acidemias by Gas Chromatography-Mass Spectrometry. Alan R. Liss, New York

    Google Scholar 

  3. Goussault Y, Turpin E, Neel D, Dreux C, Chanu B, Bakir R, Rouffy J (1982) “Pseudohypertriglyceridemia” caused by hyperglycerolemia due to congenital enzyme deficiency. Clin Chim Acta 123:269–274

    Article  PubMed  CAS  Google Scholar 

  4. Guggenheim MA, McCabe ER, Roig M, Goodman SI, Lum GM, Bullen WW, Ringel SP (1980) Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities. Ann Neurol 7:441–449

    Article  PubMed  CAS  Google Scholar 

  5. McCabe E (2001) Disorders of glycerol metabolism. In: Scriver C, Beaudet A, Sly W, Valle D, Childs B, Vogelstein B (eds) Metabolic and Molecular Bases of Inherited Diseases. McGraw-Hill, New York, pp 2217–2237

    Google Scholar 

  6. McCabe ER, Fennessey PV, Guggenheim MA, Miles BS, Bullen WW, Sceats DJ, Goodman SI (1977) Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria. Biochem Biophys Res Commun 78:1327–1333

    Article  PubMed  CAS  Google Scholar 

  7. McCabe ER, Sadava D, Bullen WW, McKelvey HA, Seltzer WK, Rose CI (1982) Human glycerol kinase deficiency: enzyme kinetics and fibroblast hybridization. J Inherit Metab Dis 5:177–182

    Article  PubMed  CAS  Google Scholar 

  8. Rose CI, Haines DS (1978) Familial hyperglycerolemia. J Clin Invest 61:163–170

    Article  PubMed  CAS  Google Scholar 

  9. Seltzer WK, McCabe ER (1984) Human and rat adrenal glycerol kinase: subcellular distribution and bisubstrate kinetics. Mol Cell Biochem 62:43–50

    Article  PubMed  CAS  Google Scholar 

  10. Seltzer WK, McCabe ER (1984) Subcellular distribution and kinetic properties of soluble and particulate–associated bovine adrenal glycerol kinase. Mol Cell Biochem 64:51–61

    Article  PubMed  CAS  Google Scholar 

  11. Sjarif DR, Hellerud C, van Amstel JK, Kleijer WJ, Sperl W, Lacombe D, Sass JO, Beemer FA, Duran M, Poll-The BT (2004) Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation. Eur J Hum Genet 12:424–432

    Article  PubMed  CAS  Google Scholar 

  12. Stanczak CM, Chen Z, Zhang YH, Nelson SF, McCabe ERB (2007) Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays. Hum Mutat 28:235–242

    Article  PubMed  CAS  Google Scholar 

  13. Wu LC, Cheng CM (2005) Flow-injection enzymatic analysis for glycerol and triacylglycerol. Anal Biochem 346:234–240

    Article  PubMed  CAS  Google Scholar 

  14. Zhang Y, Dipple KM, Vilain E, Huang BL, Finlayson G, Therrell BL, Worley K, Deininger P, McCabe ER (2000) AluY insertion (ivs4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency. Hum Mutat 15:316–323

    Article  PubMed  CAS  Google Scholar 

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Author information

Authors and Affiliations

  1. Departments of Human Genetics and Pediatrics, David Geffen School of Medicine at UCLA, Gonda Center 5506B, 695 Charles E. Young Drive South, 90095-7088, Los Angeles, CA, USA

    Katrina M. Dipple

  2. Department of Pediatrics, David Geffen School of Medicine at UCLA, 10833 LeConte Ave, 90095-1752, Los Angeles, CA, USA

    Edward R.B. McCabe

Authors
  1. Katrina M. Dipple
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  2. Edward R.B. McCabe
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Editor information

Editors and Affiliations

  1. Division of Clinical Chemistry and Biochemistry, University Children’s Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland

    Nenad Blau

  2. Academic Medical Centre, Lab. Genetic Metabolic; Diseases Fo-224, University Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, Netherlands

    Marinius Duran

  3. Dept. of Molecular and Medical Genetics, Oregon Health & Science University, 3rd Avenue 2525, 97201, Portland, USA

    K. Michael Gibson

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© 2008 Springer-Verlag Berlin Heidelberg

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Dipple, K., McCabe, E. (2008). Glycerol and Glycerol Phosphates. In: Blau, N., Duran, M., Gibson, K. (eds) Laboratory Guide to the Methods in Biochemical Genetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-76698-8_14

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  • DOI: https://doi.org/10.1007/978-3-540-76698-8_14

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-76697-1

  • Online ISBN: 978-3-540-76698-8

  • eBook Packages: MedicineMedicine (R0)

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