Disorders of proline and serine metabolism

Inborn Metabolic Diseases: Diagnosis and Treatment

Volumn , Issue , 2012, Pages 357-362

  Jaeken, Jaak ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84872031000     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-642-15720-2_25     Document Type: Chapter

References (20)

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3. Jacquet H, Raux G, Thibaut F et al. (2002) PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. Hum Mol Genet 11:2243-2249
4. Bender HU, Almasham S, Steel G et al. (2005) Functional consequences of PRODH missense mutations. Am J Hum Genet 76:409-420
5. Jaeken J, Goemans N, Fryns J-P et al. (1996) Association of hyperprolinemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene. J Inherit Metab Dis 19:275-277
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7. Clayton PT (2006) B6-Responsive disorders: a model of vitamin dependency. J Inherit Metab Dis 29:317-326
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9. Guemsy DL, Jiang H, Evans SC et al. (2009) Mutation in pyrroline- 5-carboxylate reductase 1 gene in families with cutis laxa type 2. Am J Med Genet 85:120-129
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11. Jaeken J, Detheux M, Maldergem v L et al. (1996) 3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis. Arch Dis Child 74:542-545
12. Tabatabaie L, Klomp LW, Berger R, de Koning TJ (2010) l-Serine synthesis in the central nervous system: a review on serine deficiency disorders. Mol Genet Metab 99:256-262
13. Tabatabaie L, de Koning TJ, Geboers AJ et al. (2009) Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. Hum Mutat 30:749-756
14. Klomp LW, de Koning TJ, Malingre HE et al. (2000) Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency – a neurometabolic disorder associated with reduced l-serine biosynthesis. Am J Hum Genet 67:1389-1399
15. De Koning TJ, Klomp LW, van Oppen AC et al. (2004) Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency. Lancet 364:2221-2222
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20. De Klerk JB, Huijmans JGM, Catsman-Berrevoets CE et al. (1996) Disturbed biosynthesis of serine; a second phenotype with axonal polyneuropathy and ichthyosis. Abstracts of the annual meeting of the Erfelijke Stofwisselingsziekten Nederland, Maastricht, 13-15 Oct 1996