Abstract
Three disorders of proline metabolism are known: two in its catabolism (hyperprolinemia type I due to proline oxidase deficiency and hyperprolinemia type II due to Δ1-pyrroline 5-carboxylate dehydrogenase deficiency) and one in its synthesis (Δ′-pyrroline 5-carboxylate synthetase deficiency). Hyperprolinemia type I is a non-disease, while hyperprolinemia type II seems to be associated with a disposition to recurrent seizures. A defect in a proline-synthesizing enzyme, Δ1-pyrroline 5-carboxylate synthetase, was demonstrated in siblings with joint hyperlaxity, skin hyperelasticity, cataract, mental retardation with hyperammonemia, and low citrulline, ornithine and proline.
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References
Scriver CR, Schafer IA, Efron ML (1961) New renal tubular amino acid transport system and a new hereditary disorder of amino acid metabolism. Nature 192: 672
Phang JM, Yeh GC, Scriver CR (1995) Disorders of proline and hydroxyproline metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th edn. McGraw-Hill, New York, pp 1125–1146
Aral B, Kamoun P (1997) The proline biosynthesis in living organisms. Amino Acids 13: 189–217
Lin WW, Hu C-A, Valle D (1997) Cloning and characterization of cDNAs encoding human proline oxidase, the enzyme deficient in type I hyperprolinemia. Pediatr Res 41: 105A
Jaeken J, Goemans N, Fryns J-P, François I, de Zegher F (1996) Association of hyperprolinaemia 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
Geraghty MT, Vaughn D, Nicholson AJ, Lin WW, Jimenez-Sanchez G, Obie C, Flynn MP, Valle D (1998) Mutations in the delta i-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. Hum Mol Genet 7: 1411–1415
Rabier D, Nuttin C, Poggi F, Padovani JP, Abdo K, Bardet J, Parvy P, Kamoun P, Saudubray JM (1992) Familial joint hyperlaxity, skin hyperelasticity, cataract and mental retardation with hyperammonemia and low citrulline, ornithine and proline. A new disorder of collagen metabolism? Abstracts of the 3oth annual symposium of the Society for the Study of Inborn Errors of Metabolism. Leuven, 8-n Sept 1992
Kamoun P, Aral B, Saudubray J-M (1998) A new inherited metabolic disease: A’-pyrroline 5-carboxylate synthetase deficiency. Bull Acad Natl Med 182: 131–139
Jaeken J, Detheux M, Van Maldergem L, Foulon M, Carchon H, Van Schaftingen E (1996) 3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis. Arch Dis Child 74:542-545
De Koning TJ, Duran M, Dorland L, Gooskens R, Van Schaftingen E, Jaeken J, Blau N, Berger R, Poll-The BT (1998) Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency. Ann Neurol 44: 261–265
Pineda M, Vilaseca MA, Artuch R, Santos S, Garcia Gonzalez MM, San I, Jaeken J (1998) Serine deficiency in West syndrome. J Inherit Metab Dis 22 [Suppl 2]: 55
Jaeken J, Detheux M, Fryns J-P, Collet J-F, Alliet P, Van Schaftingen E (1997) Phosphoserine phosphatase deficiency in a patient with Williams syndrome. J Med Genet 34: 594–596
De Klerk JBC, Huijmans JGM, Catsman-Berrevoets CE, Lindhout D, den Hollander JC, Duran M (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
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Jaeken, J. (2000). Disorders of Proline and Serine Metabolism. In: Fernandes, J., Saudubray, JM., Van den Berghe, G. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-04285-4_22
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DOI: https://doi.org/10.1007/978-3-662-04285-4_22
Publisher Name: Springer, Berlin, Heidelberg
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