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Journal of Inherited Metabolic Disease

, Volume 19, Issue 2, pp 223–226 | Cite as

3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: Inborn errors of serine biosynthesis

  • J. Jaeken
  • M. Detheux
  • L. Van Maldergem
  • J. P. Frijns
  • P. Alliet
  • M. Foulon
  • H. Carchon
  • E. Van Schaftingen
Short Communication — SSIEM Award

Keywords

Public Health Internal Medicine Serine Metabolic Disease Inborn Error 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Ewart AK, Morris CA, Atkinson D, et al (1993) Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.Nature Genet 5: 11–16.Google Scholar
  2. Jaeken J, Detheux M, Van Maldergem L, Foulon M, Carchon H, Van Schaftingen E (in press). 3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.Arch Dis Child.Google Scholar
  3. Koch G, Eddy RL, Haley LL, Byers MG, McAvoy M, Shows TB (1983) Assignment of the human phosphoserine phosphatase gene (PSP) to the pter → q22 region of chromosome 7.Cytogenet Cell Genet 35: 67–69.Google Scholar
  4. Novelli G, Dallapicola B (1988) Gene dosage studies regionally assign the phosphoserine phosphatase gene to 7p15.1 or 2.Ann Génét 31: 195–196.Google Scholar
  5. Scriver CR, Beaudet AL, Sly WS, Valle D (1995) Amino acids. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds.The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, 1015–1368.Google Scholar
  6. Smith QR, Momma S, Aoyagi M, Rapoport SI (1987) Kinetics of neutral amino acid transport across the blood-brain barrier.J Neurochem 49: 1651–1658.Google Scholar
  7. Snell K (1983) Enzymes of serine metabolism in normal, developing and neoplastic rat tissues.Adv Enzym Regul 22: 325–400.Google Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1996

Authors and Affiliations

  • J. Jaeken
    • 6
  • M. Detheux
    • 2
  • L. Van Maldergem
    • 3
  • J. P. Frijns
    • 1
  • P. Alliet
    • 4
  • M. Foulon
    • 5
  • H. Carchon
    • 6
  • E. Van Schaftingen
    • 2
  1. 1.Department GeneticsUniversity of LeuvenBelgium
  2. 2.Laboratory of Physiological ChemistryInstitute of Cellular and Molecular PathologyBrussels
  3. 3.Institute of MorphologyLoverval
  4. 4.Virga Jesse HospitalHasselt
  5. 5.Civic HospitalCharlerloiBelgium
  6. 6.Department of Pediatrics, Centre for Metabolic DiseasesUniversity Hospital GasthuisbergLeuvenBelgium

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