Inborn errors of proline metabolism

Journal of Nutrition

Volumn 138, Issue 10, 2008, Pages

  Mitsubuchi, Hiroshi ^a   Nakamura, Kimitoshi ^a   Matsumoto, Shiro ^a   Endo, Fumio ^a  

^a KUMAMOTO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOTRANSFERASE; ORNITHINE; PROLINE; PROLINE DEHYDROGENASE;

AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOMAL LOCALIZATION; CHROMOSOME 22; CLINICAL FEATURE; CONFERENCE PAPER; CONGENITAL MALFORMATION; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE LOCUS; GENETIC SUSCEPTIBILITY; HUMAN; HYDROXYPROLINEMIA; HYPERAMMONEMIA; HYPERPROLINEMIA; HYPOARGININEMIA; HYPOCITRULLINEMIA; HYPOORNITHINEMIA; HYPOPROLINEMIA; INBORN ERROR OF METABOLISM; METABOLIC DISORDER; PREVALENCE; PROMOTER REGION; PROTEIN DEFICIENCY; PROTEIN METABOLISM; RETINA GYRATE ATROPHY; SCHIZOPHRENIA; VELOCARDIOFACIAL SYNDROME;

EID: 54749117432     PISSN: 00223166     EISSN: 15416100     Source Type: Journal    
DOI: 10.1093/jn/138.10.2016s     Document Type: Conference Paper

References (51)

1. Schafer IA, Scriver CR, Efron ML. Familial hyperprolinemia, cerebral dysfunction and renal anomalies occuring in a family with hereditary nephropathy and deafness. N Engl J Med. 1962;267:51-60.
2. Phang JM, Hu C-A, Valle D. Disorders of proline and hydroxyproline metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill; 2001. pp. 1821-38.
3. Campbell HD, Webb GC, Young IG. A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia. Hum Genet. 1997;101:69-74.
4. Jaeken J, Goemans N, Fryns JP, Farncois I, Zegher F. 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. 1996;19:275-7.
5. Kopelman H, Asatoor AM, Milne MD. Hyperprolinaemia and hereditary nephritis. Lancet. 1964;7369:1075-9.
6. Efron ML. Familial hyperprolinemia. Report of a second case, associated with congenital renal malformations, hereditary hematuria and mild mental retardation, with demonstration of an enzyme defect. N Engl J Med. 1965;272:1243-54.
7. Rokkones T, Loken AC. Congenital renal dysplasia, retinal dysplasia and mental retardation associated with hyperprolinuria and hyper-oh-prolinuria. Acta Paediatr Scand. 1968;57:225-9.
8. Perry TL, Hardwick DF, Lowry RB, Hansen S. Hyperprolinaemia in two successive generations of a North American Indian family. Ann Hum Genet. 1968;31:401-7.
9. Woody NC, Snyder CH, Harris JA. Hyperprolinemia: clinical and biochemical family study. Pediatrics. 1969;44:554-63.
10. Fontaine G, Farriaux JP, Dautrevaux M. Type I hyperprolinemia. Study of a familial case. Helv Paediatr Acta. 1970;25:165-75.
11. Hainaut H, Hariga J, Willems C, Heusden A, Chapelle P. Familial essential hyperprolinemia. Presse Med. 1971;79:945-8.
12. Mollica F, Pavone L, Antener I. Familial hyperprolinemia without mental retardation and hereditary nephropathy. Monogr Hum Genet. 1972;6:144-5.
13. Potter JL, Waickman FJ. Hyperprolinemia. I. A study of a large family. J Pediatr. 1973;83:635-8.
14. Steinlin M, Boltshauser E, Steinmann B, Wichmann W, Niemeyer G. Hyperprolinaemia type I and white matter disease: coincidence or causal relationship? Eur J Pediatr. 1989;149:40-2.
15. Humbertclaude V, Rivier F, Roubertie A, Echenne B, Bellet H, Vallat C, Morin D. Is hyperprolinemia type I actually a benign trait? Report of a case with severe neurologic involvement and vigabatrin intolerance. J Child Neurol. 2001;16:622-3.
16. Jacquet H, Raux G, Thibaut F, Hecketsweiler B, Houy E, Demilly C, Haouzir S, Allio G, Fouldrin G, et al. PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. Hum Mol Genet. 2002;11:2243-9.
17. Jacquet H, Berthelot J, Bonnemains C, Simard G, Saugier-Veber P, Raux G, Campion D, Bonneau D, Frebourg T. The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene. J Med Genet. 2003;40:e7.
18. Raux G, Bumsel E, Hecketsweiler B, Amelsvoort T, Zinkstok J, Manouvrier-Hanu S, Fantini C, Brévière GM, Di Rosa G, et al. Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. Hum Mol Genet. 2007;16:83-91.
19. Afenjar A, Moutard ML, Doummar D, Guët A, Rabier D, Vermersch AI, Mignot C, Burglen L, Heron D, et al. Early neurological phenotype in 4 children with biallelic PRODH mutations. Brain Dev. 2007;29:547-52.
20. Shprintzen RJ, Goldberg RB, Young D, Wolford L. The velo-cardiofacial syndrome: a clinical and genetic analysis. Pediatrics. 1981;67:167-72.
21. Bender HU, Almashanu S, Steel G, Hu CA, Lin WW, Willis A, Pulver A, Valle D. Functional consequences of PRODH missense mutations. Am J Hum Genet. 2005;76:409-20.
22. Valle DL, Phang JM, Goodman SI. Type 2 hyperprolinemia: absence of delta1-pyrroline-5-carboxylic acid dehydrogenase activity. Science. 1974;185:1053-4.
23. Geraghty MT, Vaughn D, Nicholson AJ, Lin WW, Jimenez-Sanchez G, Obie C, Flynn MP, Valle D, Hu CA. Mutations in the delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. Hum Mol Genet. 1998;7:1411-5.
24. Flynn MP, Martin MC, Moore PT, Stafford JA, Fleming GA, Phang JM. Type II hyperprolinaemia in a pedigree of Irish travellers (nomads). Arch Dis Child. 1989;64:1699-707.
25. Farrant RD, Walker V, Mills GA, Mellor JM, Langley GJ. Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II. J Biol Chem. 2001;276:15107-16.
26. Walker V, Mills GA, Peters SA, Merton WL. Fits, pyridoxine, and hyperprolinaemia type II. Arch Dis Child. 2000;82:236-7.
27. Valle DI, Goodman SI, Haris SC, Phang JM. Genetic evidence for a common enzyme catalizing the second step in the degradation of proline and hydroxyproline. J Clin Invest. 1979;64:1365-70.
28. Dooley KC, Applegarth DA. Hyperprolinemia type II: evidence of the excretion of 3-hydroxy delta 1-pyrroline 5-carboxylic acid. Clin Biochem. 1979;12:62-5.
29. Roesel RA, Blankenship PR, Lynch WR, Coryell ME, Thevaos TG, Hall WK. Hydroxyproline metabolism in two sisters with hydroxyprolinemia. Hum Hered. 1979;29:364-70.
30. Baumgartner MR, Hu CA, Almashanu S, Steel G, Obie C, Aral B, Rabier D, Kamoun P, Saudubray JM, et al. Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. Hum Mol Genet. 2000;9:2853-8.
31. Valle D, Simell O. The hyperornithinemias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill; 2001. pp. 1857-95.
32. Hechtman P. Prolidase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill; 2001. p. 1839-56.
33. Endo F, Tanoue A, Nakai H, Hata A, Indo Y, Titani K, Matsuda I. Primary structure and gene localization of human prolidase. J Biol Chem. 1989;264:4476-81.
34. Tanoue A, Endo F, Matsuda I. The human prolidase gene: structure and restriction fragment length polymorphisms. J Inherit Metab Dis. 1990;13:771-4.
35. Endo F, Tanoue A, Hata A, Kitano A, Matsuda I. Deduced amino acid sequence of human prolidase and molecular analyses of prolidase deficiency. J Inherit Metab Dis. 1989;12:351-4.
36. Tanoue A, Endo F, Matsuda I. Structural organization of the gene for human prolidase (peptidase D) and demonstration of a partial gene deletion in a patient with prolidase deficiency. J Biol Chem. 1990;265:11306-11.
37. Tanoue A, Endo F, Kitano A, Matsuda I. A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells. J Clin Invest. 1990;86:351-5.
38. Endo F, Tanoue A, Kitano A, Arata J, Danks DM, Lapière CM, Sei Y, Wadman SK, Matsuda I. Biochemical basis of prolidase deficiency. Polypeptide and RNA phenotypes and the relation to clinical phenotypes. J Clin Invest. 1990;85:162-9.
39. Tanoue A, Endo F, Akaboshi I, Oono T, Arata J, Matsuda I. Molecular defect in siblings with prolidase deficiency and absence or presence of clinical symptoms. A 0.8-kb deletion with breakpoints at the short, direct repeat in the PEPD gene and synthesis of abnormal messenger RNA and inactive polypeptide. J Clin Invest. 1991;87:1171-6.
40. Hershkovitz T, Hassoun G, Indelman M, Shlush LI, Bergman R, Pollack S, Sprecher E. A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome. Clin Exp Dermatol. 2006;31:435-40.
41. Taylor CL, Yetley EA. Nutrient risk assessment as a tool for providing scientific assessments to regulators. J Nutr. 2008;138:1987-91.
42. Hathcock JN, Shao A. Expanded approach to tolerable upper intake guidelines for nutrients and bioactive substances. J Nutr. 2008;138:1992-5.
43. Pencharz PB, Elango R, Ball RO. An approach to defining the upper safe limits of amino acid intake. J Nutr. 2008;138:1996-2002.
44. Watford M. Glutamine metabolism and function in relation to proline synthesis and the safety of glutamine and proline supplementation. J Nutr. 2008;138:2003-7.
45. Phang JM, Jui Pandhare J, Liu Y. The metabolism of proline as microenvironmental stress substrate. J Nutr. 2008;138:2008-15.
46. Barbul A. Proline precursors to sustain mammalian collagen synthesis. J Nutr. 2008;138:2021-4.
47. Roth E. Nonnutritive effects of glutamine. J Nutr. 2008;138:2025-31.
48. Bertolo RF, Burrin DG. Comparative aspects of tissue glutamine and proline metabolism. J Nutr. 2008;138:2032-9.
49. Wernerman J. Clinical use of glutamine supplementation. J Nutr. 2008;138:2040-4.
50. Gleeson M. Dosing and efficacy of glutamine supplementation in human exercise and sport training. J Nutr. 2008;138:2045-9.
51. Kimura T, Renwick AG, Kadowaki M, Cynober LA. The 7th workshop on the assessment of adequate intake of dietary amino acids: summary of general discussion. J Nutr. 2008;138:2050-2.