Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

Journal of Inherited Metabolic Disease

Volumn 37, Issue 1, 2014, Pages 21-30

  Rüegger, Corinne M ^a,b   Lindner, Martin ^c   Ballhausen, Diana ^d   Baumgartner, Matthias R ^a,b   Beblo, Skadi ^e   Das, Anibh ^f   Gautschi, Matthias ^g   Glahn, Esther M ^c   Grünert, Sarah C ^h   Hennermann, Julia ⁱ   Hochuli, Michel ^j   Huemer, Martina ^k   Karall, Daniela ^l   Kölker, Stefan ^c   Lachmann, Robin H ^m   Lotz Havla, Amelie ⁿ   Möslinger, Dorothea ^o   Nuoffer, Jean Marc ^g   Plecko, Barbara ^a,b,p   Rutsch, Frank ^q   Santer, René ^r   Spiekerkoetter, Ute ^h,s   Staufner, Christian ^c   Stricker, Tamar ^a,b   Wijburg, Frits A ^t   Williams, Monique ^u   Burgard, Peter ^c   Häberle, Johannes ^a,b   more..

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b Children's Research Center   (Switzerland)

^c UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^d LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^e UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^f HANNOVER MEDICAL SCHOOL   (Germany)

^g UNIVERSITY OF BERN   (Switzerland)

^h UNIVERSITY OF FREIBURG   (Germany)

ⁱ CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^j UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^k Landeskrankenhaus Bregenz ^*  (Austria)

^l INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^m NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

ⁿ LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^o MEDICAL UNIVERSITY OF VIENNA   (Austria)

^p UNIVERSITY HOSPITAL GRAZ   (Austria)

^q UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^r UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^s UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^t ACADEMIC MEDICAL CENTER   (Netherlands)

^u SOPHIA CHILDREN S HOSPITAL   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; ASYMPTOMATIC DISEASE; COGNITIVE DEFECT; CROSS-SECTIONAL STUDY; DIET; EUROPE; FEMALE; HUMAN; LIVER TRANSPLANTATION; MAJOR CLINICAL STUDY; MALE; MORTALITY; NEWBORN SCREENING; OBSERVATIONAL STUDY; ORNITHINE TRANSCARBAMYLASE DEFICIENCY; UREA CYCLE DISORDER;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; ARGININE; CHILD; CHILD, PRESCHOOL; CITRULLINE; COGNITION DISORDERS; COHORT STUDIES; CROSS-SECTIONAL STUDIES; DIET THERAPY; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; NEONATAL SCREENING; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; TIME FACTORS; TREATMENT OUTCOME; UREA CYCLE DISORDERS, INBORN; YOUNG ADULT;

EID: 84891825292     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-013-9624-0     Document Type: Article

References (41)

1. Bachmann C (2002) Mechanisms of hyperammonemia. Clin Chem Lab Med 40:653-662
2. Berning C, Bieger I, Pauli S et al (2008) Investigation of citrullinemia type I variants by in vitro expression studies. Hum Mutat 29:1222-1227
3. Bogdanovic MD, Kidd D, Briddon A, Duncan JS, Land JM (2000) Late onset heterozygous ornithine transcarbamylase deficiency mimicking complex partial status epilepticus. J Neurol Neurosurg Psychiatry 69:813-815
4. Brusilow SW (1984) Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis. J Clin Invest 74:2144-2148
5. Brusilow S, Horwich A (2001) Urea cycle enzymes. In: Scriver C, Beaudet A, Sly W, Valle D (eds) The metabolic & molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 1909-1963
6. Brusilow SW, Maestri NE (1996) Urea cycle disorders: diagnosis, pathophysiology, and therapy. Adv Pediatr 43:127-170
7. Davis PK, Wu G (1998) Compartmentation and kinetics of urea cycle enzymes in porcine enterocytes. Comp Biochem Physiol B Biochem Mol Biol 119:527-537
8. Dionisi-Vici C, Rizzo C, Burlina AB, Caruso U, Sabetta G, Uziel G, Abeni D (2002) Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. J Pediatr 140:321-327
9. Enns GM (2008) Neurologic damage and neurocognitive dysfunction in urea cycle disorders. Semin Pediatr Neurol 15:132-139
10. Felig DM, Brusilow SW, Boyer JL (1995) Hyperammonemic coma due to parenteral nutrition in a woman with heterozygous ornithine transcarbamylase deficiency. Gastroenterology 109:282-284
11. Ficicioglu C, Mandell R, Shih VE (2009) Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening. Mol Genet Metab 98:273-277
12. Genet S, Cranston T, Middleton-Price HR (2000) Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations. J Inherit Metab Dis 23:669-676
13. Häberle J, Pauli S, Schmidt E, Schulze-Eilfing B, Berning C, Koch HG (2003) Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1). Mol Genet Metab 80:302-306
14. Häberle J, Shchelochkov OA, Wang J et al (2011) Molecular defects in human carbamoyl phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations. Hum Mutat 32:579-589
15. Häberle J, Boddaert N, Burlina A et al (2012) Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis 7:32
16. Häussinger D (1990) Nitrogen metabolism in liver: structural and functional organization and physiological relevance. Biochem J 267:281-290
17. Honeycutt D, Callahan K, Rutledge L, Evans B (1992) Heterozygote ornithine transcarbamylase deficiency presenting as symptomatic hyperammonemia during initiation of valproate therapy. Neurology 42:666-668
18. Kleijer WJ, Garritsen VH, Linnebank M et al (2002) Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. J Inherit Metab Dis 25:399-410
19. Kölker S, Dobbelaere D, Chakrapani A et al (2011) European registry and network for intoxication type metabolic diseases (E-IMD) (Abstract). J Inher Metab Dis 34:S93
20. Lee PJ (2006) Hyperammonaemia in adolescence and adulthood. In: Bachmann C, Häberle J, Leonard J (eds) Pathophysiology and management of hyperammonaemia. SPS Verlagsgesellschaft, Heilbronn, pp 93-99
21. Lee B, Singh RH, Rhead WJ, Sniderman King L, Smith W, Summar ML (2005) Considerations in the difficult-to-manage urea cycle disorder patient. Crit Care Clin 21:S19-S25
22. Legras A, Labarthe F, Maillot F, Garrigue MA, Kouatchet A, Ogier de Baulny H (2002) Late diagnosis of ornithine transcarbamylase defect in three related female patients: polymorphic presentations. Crit Care Med 30:241-244
23. Leonard JV, Morris AA (2002) Urea cycle disorders. Semin Neonatol 7:27-35
24. Maestri NE, Lord C, Glynn M, Bale A, Brusilow SW (1998) The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency. Medicine (Baltimore) 77:389-397
25. Mercimek-Mahmutoglu S, Moeslinger D, Häberle J et al (2010) Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria. Mol Genet Metab 100:24-28
26. Msall M, Batshaw ML, Suss R, Brusilow SW, Mellits ED (1984) Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies. N Engl J Med 310:1500-1505
27. Nassogne MC, Heron B, Touati G, Rabier D, Saudubray JM (2005) Urea cycle defects: management and outcome. J Inherit Metab Dis 28:407-414
28. Picca S, Dionisi-Vici C, Abeni D et al (2001) Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators. Pediatr Nephrol 16:862-867
29. Rowe PC, Newman SL, Brusilow SW (1986) Natural history of symptomatic partial ornithine transcarbamylase deficiency. N Engl J Med 314:541-547
30. Salek J, Byrne J, Box T, Longo N, Sussman N (2010) Recurrent liver failure in a 25-year-old female. Liver Transpl 16:1049-1053
31. Saudubray JM, Sedel F, Walter JH (2006) Clinical approach to treatable inborn metabolic diseases: an introduction. J Inherit Metab Dis 29:261-274
32. Schimanski U, Krieger D, Horn M, Stremmel W, Wermuth B, Theilmann L (1996) A novel two-nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy. Hepatology 24:1413-1415
33. Smith W, Kishnani PS, Lee B et al (2005) Urea cycle disorders: clinical presentation outside the newborn period. Crit Care Clin 21:S9-S17
34. Snebold NG, Rizzo JF, Lessell S, Pruett RC (1987) Transient visual loss in ornithine transcarbamoylase deficiency. Am J Ophthalmol 104:407-412
35. Summar ML, Dobbelaere D, Brusilow S, Lee B (2008) Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes. Acta Paediatr 97:1420-1425
36. Thurlow VR, Asafu-Adjaye M, Agalou S, Rahman Y (2010) Fatal ammonia toxicity in an adult due to an undiagnosed urea cycle defect: under-recognition of ornithine transcarbamylase deficiency. Ann Clin Biochem 47:279-281
37. Tuchman M (1992) The clinical, biochemical, and molecular spectrum of ornithine transcarbamylase deficiency. J Lab Clin Med 120:836-850
38. Tuchman M, Matsuda I, Munnich A, Malcolm S, Strautnieks S, Briede T (1995) Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency. Am J Med Genet 55:67-70
39. Tuchman M, Lee B, Lichter-Konecki U et al (2008) Cross-sectional multicenter study of patients with urea cycle disorders in the United States. Mol Genet Metab 94:397-402
40. Wilcken B (2004) Problems in the management of urea cycle disorders. Mol Genet Metab 81(Suppl 1):S86-S91
41. Yamaguchi S, Brailey LL, Morizono H, Bale AE, Tuchman M (2006) Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene. Hum Mutat 27:626-632