Laboratory evaluation of urea cycle disorders

Journal of Pediatrics

Volumn 138, Issue 1 SUPPL., 2001, Pages

  Steiner, Robert D ^a,b   Cederbaum, Stephen D ^a,b  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ARGINASE; ARGININOSUCCINATE LYASE; ARGININOSUCCINATE SYNTHASE; CARBAMOYL PHOSPHATE SYNTHASE; GLUTAMIC ACID; GLUTAMINE; N ACETYLGLUTAMIC ACID; ORNITHINE CARBAMOYLTRANSFERASE; OROTIC ACID;

CONFERENCE PAPER; DIFFERENTIAL DIAGNOSIS; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DNA DETERMINATION; ENZYME ANALYSIS; HETEROZYGOTE DETECTION; HUMAN; HYPERAMMONEMIA; LABORATORY DIAGNOSIS; NEWBORN SCREENING; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; UREA CYCLE;

EID: 0035139916     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1067/mpd.2001.111833     Document Type: Conference Paper

References (72)

1. Urea cycle enzymes
2. Inherited hyperammonemia
3. Diagnosis of urea cycle disorders
4. Focal glycogenosis of the liver in disorders of ureagenesis: Its occurrence and diagnostic significance
5. Heritable urea cycle enzyme deficiency - Liver disease in 16 patients
6. Severe liver fibrosis in argininosuccinic aciduria
7. Liver pathology in a new congenital disorder of urea synthesis: N-acetylglutamate synthase deficiency
8. New approaches to the diagnosis and treatment of inborn errors of urea synthesis
9. The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease
10. Diagnostic value of orotic acid in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias
11. Secondary carnitine deficiency in hyperammonemic attacks of ornithine transcarbamylase deficiency
12. Secondary carnitine deficiency in the newborn period in twins of a mother with partial ornithine transcarbamylase deficiency
13. Blood levels of ammonia and nitrogen scavenging amino acids in patients with inherited hyperammonemia
14. Prospective treatment of urea cycle disorders
15. Use of citrulline as a diagnostic marker in the prospective treatment of urea cycle disorders
16. Treatment of carbamyl phosphate synthetase deficiency and keto analogues of essential amino acids
17. Citrullinemia: Investigation and treatment over a four-year period
18. Carder detection in ornithine transcarbamylase deficiency
19. Urinary pyrimidine excretion in arginase deficiency
20. Argininemia
21. Urea cycle
22. Ure cycle disorders and other congenital hyperammonemic disorders
23. Long-term management of patients with urea cycle disorders
24. Properties of fetal and adult red blood cell arginase: A possible prenatal diagnostic test for arginase deficiency
25. Arginase deficiency in a 12-year-old boy with mild impairment of intellectual function
26. N-acetylglutamate synthase deficiency: Diagnosis, management and follow-up of a rare disorder of ammonia detoxication
27. N-acetylglutamate synthase deficiency: Clinical and laboratory observations
28. Identification of "private" mutations in patients with ornithine transcarbamylase deficiency
29. The biochemical and molecular spectrum of ornithine transcarbamylase deficiency
30. Allopurinol-induced orotidinuria
31. Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyl-transferase deficiency
32. Allopurinol challenge test in children
33. Optimization of allopurinol challenge: Sample purification, protein intake control, and the use of orotidine response as a discriminative variable improve performance of the test for diagnosing ornithine carbamoyl-transferase deficiency
34. The allopurinol loading test in detecting obligate heterozygotes for OTC deficiency
35. False positive alanine tolerance test results in heterozygote detection of urea cycle disorders
36. In vivo measurement of ureagenesis with stable isotopes
37. In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle
38. Improved molecular diagnostics for omithine transcarbamylase deficiency
39. Prenatal diagnosis and heterozygote detection by DNA analysis in ornithine transcarbamylase deficiency
40. Plante 1LI. Mutations and polymorphisms in the human ornithine transcarbamylase gene: Mutation update addendum
41. Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS 1
42. Molecular genetic research into carbamoyl-phosphate synthase I: Molecular defects and linkage markers
43. Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis
44. Prenatal monitoring of ornithine transcarbamylase deficiency in two families by DNA analysis
45. Prenatal diagnosis of ornithine transcarbamylase deficiency by using a single nucleated erythrocyte from maternal blood
46. Gestational age-related reference values for amniotic fluid amino acids: A useful tool for prenatal diagnosis of aminoacidopathies
47. Prenatal diagnosis of the urea cycle diseases: A survey of the European cases
48. Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia
49. The human arginases and arginase deficiency
50. Loss of function mutations in conserved regions of the human arginase 1 gene
51. Applications of electrospray tandem mass spectrometry to neonatal screening
52. Investigation of urea cycle enzyme disorders by 1H-NMR spectroscopy
53. Measurement of ammonia in blood
54. Inborn errors of metabolism
55. Comparison of post-mortem urinary and vitreous humour organic acids
56. Biochemical diagnosis of fatty acid oxidation disorders by metabolite analysis of post-mortem liver
57. Inborn errors of metabolism; the clinical diagnosis in early infancy
58. Investigation of inborn errors of metabolism in unexpected infant deaths
59. Inherited metabolic disease in the newborn; approach to diagnosis and treatment
60. A perimortem protocol for suspected genetic disease
61. A diagnostic approach to metabolic acidosis in children
62. Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children: An investigation performed on cultured fibroblasts from 79 children who died aged between 0-4 years
63. Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile
64. Sudden and unexpected neonatal death: A protocol for the postmortem diagnosis of fatty acid oxidation disorders
65. Metabolic disease in the neonate
66. Inborn errors of metabolism of acute onset in infancy
67. Diagnosis and management of inborn errors of metabolism
68. Fifteen years' experience with 212 hyperammonaemic cases as a metabolic unit