Short report: Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency

Journal of Inherited Metabolic Disease

Volumn 24, Issue 4, 2001, Pages 513-514

  Barshop, B A ^a   Nyhan, W L ^a   Climent, C ^a   Rubio, V ^a  

^a INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ALLOPURINOL; AMMONIA; CARBAMOYL PHOSPHATE; CREATININE; LEUCINE; METHIONINE; ORNITHINE CARBAMOYLTRANSFERASE; OROTIC ACID; OROTIDINE; OROTIDINE 5' PHOSPHATE DECARBOXYLASE; PHENYLALANINE; PYRIMIDINE; THYMINE; URACIL; URIDINE;

AMINO ACID SUBSTITUTION; ARTICLE; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; FEMALE; GENDER; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPERAMMONEMIA; LIVER BIOPSY; MALE; NUCLEIC ACID BASE SUBSTITUTION; RELATIVE; RELIABILITY;

ALLOPURINOL; CHILD; FALSE NEGATIVE REACTIONS; FEMALE; HETEROZYGOTE DETECTION; HUMANS; MUTATION; ORNITHINE CARBAMOYLTRANSFERASE; OROTIC ACID; URACIL;

EID: 0034834213     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1010593916546     Document Type: Article

References (3)

1. Allopurinol challenge test in children
2. Histopathological findings in a male with late-onset ornithine transcarbamylase deficiency
3. Recurrent episodes of bizarre behavior in a boy with ornithine transcarbamylase deficiency: Diagnostic failure of protein loading and allopurinol challenge tests