Δ1-pyrroline-5-carboxylate synthase deficiency: Neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline

European Journal of Pediatrics

Volumn 164, Issue 1, 2005, Pages 31-36

  Baumgartner, Matthias R ^a   Rabier, Daniel ^b   Nassogne, Marie Cécile ^b   Dufier, Jean Louis ^b   Padovani, Jean Paul ^b   Kamoun, Pierre ^b   Valle, David ^c   Saudubray, Jean Marie ^b  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

1 pyrroline 5 carboxylate synthase; Cataracts; Hyperammonaemia; Hypocitrullinaemia; Inborn error

Indexed keywords

ARGININE; CITRULLINE; DELTA 1 PYRROLINE 5 CARBOXYLATE SYNTHASE; MITOCHONDRIAL ENZYME; ORNITHINE; PROLINE; UNCLASSIFIED DRUG; DELTA 1 PYRROLINE 5 CARBOXYLATE REDUCTASE; DELTA-1-PYRROLINE-5-CARBOXYLATE REDUCTASE; PYRROLINE 5 CARBOXYLATE REDUCTASE;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CATARACT; CLINICAL FEATURE; DELTA 1 PYRROLINE 5 CARBOXYLATE SYNTHASE DEFICIENCY; DIAGNOSTIC APPROACH ROUTE; DIAGNOSTIC TEST; DIET RESTRICTION; EARLY DIAGNOSIS; ENZYME ASSAY; ENZYME DEFICIENCY; HUMAN; HYPERAMMONEMIA; INBORN ERROR OF METABOLISM; ION EXCHANGE CHROMATOGRAPHY; MALE; MEDICAL EXAMINATION; NERVE DEGENERATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DETERMINATION; UREA CYCLE; BLOOD; CHILD; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYMOLOGY; FEMALE; GENETICS; MISSENSE MUTATION; PRESCHOOL CHILD;

AMINO ACID METABOLISM, INBORN ERRORS; ARGININE; CATARACT; CHILD; CHILD, PRESCHOOL; CITRULLINE; FEMALE; HUMANS; HYPERAMMONEMIA; MALE; MUTATION, MISSENSE; ORNITHINE; PHENOTYPE; PROLINE; PYRROLINE CARBOXYLATE REDUCTASES;

EID: 12144266451     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-004-1545-3     Document Type: Article

References (14)

1. 1-pyrroline-5-carboxylate synthase. Hum Molec Genet 9: 2853-2858
2. Brusilow SW, Horwich AL (2001) Urea cycle enzymes. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 1909-1963
3. Crenn P, Vahedi K, Lavergne-Slove A, Matuchansky C, Messing B (2003) Plasma citrulline: a marker of enterocyte mass in villous atrophy-associated small bowel disease. Gastroenterology 124: 1210-1219
4. Dillon EL, Knabe DA, Wu G (1999) Lactate inhibits citrulline and arginine synthesis from proline in pig enterocytes. Am J Physiol 276: G1079-G1086
5. 1-pyrroline-5-carboxylate synthase. J Biol Chem 274: 6754-6762
6. 1 pyrroline 5-carboxylate synthetase deficiency. Bull Acad Natl Med 182: 131-139
7. Pappas P, Saudubray J-M, Tzakis A, Rabier D, Carreno M, Gomez-Marin O, Hujing F, German B, Levi D, Nery J, Kato T, Mittal N, Nishida S, JF T, Ruiz P (2001) Serum citrulline and rejection in small bowel transplantation: a preliminary report. Transplantation 72: 1212-1216
8. Phang JM, Hu C-A, Valle D (2001) Disorders of proline and hydroxyproline metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 1821-1838
9. Rabier D, Diry C, Rotig A, Rustin P, Heron B, Bardet J, Parvy P, Ponsot G, Marsac C, Saudubray J-M, Munnich A, Kamoun P (1998) Persistant hypocitrullinemia as a marker for mtDNA NARP T8993G mutation? J Inherit Metab Dis 21: 216-219
10. Shafqat S, Velaz-Faircloth M, Henzi VA, Whitney KD, Yang-Feng TL, Seldin MF, Fremeau RTJ (1995) Human brain-specific L -proline transporter: molecular cloning, functional expression and chromosomal localization of the gene in human and mouse genomes. Molec Pharmacol 48: 219-229
11. Slocum R, Cummings J (1991) Amino acid analysis of physiological samples. In: Hommes F (ed) Techniques in diagnostic human biochemical genetics, a laboratory manual. Wiley-Liss, New York, pp 87-126
12. Smith RJ, Phang JM (1978) Proline metabolism in cartilage: the importance of proline biosynthesis. Metabolism 27: 685
13. Valle D, Simell O (2001) The hyperornithinemias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 1857-1895
14. Wakabayashi Y, Yamada E, Hasegawa T, Yamada R (1991) Enzymological evidence for the indispensability of small intestine in the synthesis of arginine from glutamate. I. Pyrroline-5-carboxylate synthase. Arch Biochem Biophys 291: 1-8