Ornithine carbamoyltransferase deficiency: Improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes

Journal of Inherited Metabolic Disease

Volumn 24, Issue 1, 2001, Pages 5-14

  Potter, M ^a   Hammond, J W ^a   Sim, K G ^a   Green, A K ^a   Wilcken, B ^a  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; DNA; NITROGEN; ORNITHINE CARBAMOYLTRANSFERASE; OROTIC ACID; UREA;

ADOLESCENT; ADULT; AMINO ACID URINE LEVEL; ANALYTIC METHOD; ARTICLE; BODY SURFACE; CHICKEN; CHILD; CLINICAL PROTOCOL; CONTROLLED STUDY; DIAGNOSTIC ERROR; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; FEMALE; GENE MUTATION; HETEROZYGOSITY; HETEROZYGOTE DETECTION; HUMAN; INTERMETHOD COMPARISON; LABORATORY DIAGNOSIS; LIVER FUNCTION; MALE; MEASUREMENT; NITROGEN METABOLISM; NUCLEIC ACID ANALYSIS; PHOTOMETRY; PROTEIN DIET; SENSITIVITY AND SPECIFICITY; STANDARDIZATION; STRESS; UREA CYCLE; URINALYSIS; URINARY EXCRETION;

ADOLESCENT; ADULT; CREATINE; DIETARY PROTEINS; FEMALE; FOOD; HETEROZYGOTE DETECTION; HUMANS; MALE; MIDDLE AGED; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; OROTIC ACID; REFERENCE VALUES; SENSITIVITY AND SPECIFICITY;

EID: 0035100541     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005682017337     Document Type: Article

References (15)

1. 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 deficiency
2. False positive alanine tolerance test results in heterozygote detection of urea cycle disorders
3. Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency
4. The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease
5. Allopurinol challenge test in children
6. Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency
7. Metabolic and genetic studies of a family with ornithine transcarbamylase deficiency
8. Carrier detection in ornithine transcarbamylase deficiency
9. Conditions affecting the colorimetry of orotic acid and orotidine in urine
10. Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women
11. Carrier detection in ornithine transcarbamylase deficiency
12. Orotic acid in food milk powders
13. A new stable-isotope dilution method for measurement of orotic acid utilizing solvent-extracted urine
14. The allopurinol loading test for identification of carriers for ornithine carbamoyl transferase deficiency: Studies in a healthy control population and females at risk
15. Recurrent episodes of bizarre behaviour in a boy with ornithine transcarbamylase deficiency: Diagnostic failure of protein loading and allopurinol challenge tests