Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation

Journal of Inherited Metabolic Disease

Volumn 22, Issue 2, 1999, Pages 191-192

  Van Kuilenburg, A B P ^a   Vreken, P ^a   Riva, D ^b   Botteon, G ^b   Abeling, N G G M ^a   Bakker, H D ^a   Van Gennip, A H ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROPYRIMIDINE DEHYDROGENASE;

ARTICLE; CASE REPORT; ENZYME DEFICIENCY; GENE MUTATION; HOMOZYGOSITY; HUMAN; MALE; PRESCHOOL CHILD;

ARGININE; CHILD, PRESCHOOL; CYSTEINE; DIHYDROURACIL DEHYDROGENASE (NADP); HUMANS; MALE; MUTATION, MISSENSE; OXIDOREDUCTASES; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS;

EID: 0032929295     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005470524203     Document Type: Article

References (3)

1. Berger R, Stoker-de Vries SA, Wadman SK, et al (1984) Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism. Clin Chim Acta 141: 227-234.
2. Van Gennip AH, Abeling NGGM, Vreken P, Van Kuilenburg ABP (1997) Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects. J Inher Metab Dis 20: 203-213.
3. Vreken P, Van Kuilenburg ABP, Meinsma R, Van Gennip AH (1997) Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W. Hum Genet 101: 333-338.