Dihydropyrimidinase deficiency: Confirmation of the enzyme defect in dihydropyrimidinuria

Journal of Inherited Metabolic Disease

Volumn 20, Issue 3, 1997, Pages 339-342

  Van Gennip, A H ^a,c   De Abreu, R A ^b   Van Lenthe, H ^a   Bakkeren, J ^b   Rotteveel, J ^b   Vreken, P ^a   Van Kuilenburg, A B P ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROPYRIMIDINE DEHYDROGENASE; LIVER ENZYME; THYMINE; URACIL;

CASE REPORT; CONFERENCE PAPER; CONTROLLED STUDY; DISORDERS OF PURINE AND PYRIMIDINE METABOLISM; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; HUMAN; HUMAN TISSUE; LIVER METABOLISM; PYRIMIDINE METABOLISM; URINE LEVEL;

AMIDOHYDROLASES; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; EVOKED POTENTIALS, AUDITORY, BRAIN STEM; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; INFANT; LIVER; MENTAL RETARDATION; PYRIMIDINES;

EID: 0030878536     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005309423960     Document Type: Conference Paper

References (6)

1. Duran M, Rovers P, De Bree PK, et al (1991) Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism. J Inher Metab Dis 14: 367-370.
2. Henderson MJ, Ward K, Simmonds HA, Duley JA, Davies P (1993) Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay. J Inher Metab Dis 16: 574- 576.
3. Ohba S, Kidouchi K, Sumi S, et al (1994) Dihydropyrimidinuria: the first case in Japan. Adv Exp Med Biol 370: 383 - 386.
4. Smith PK, Krohn RI, Hermanson GT, et al (1985) Measurement of protein using bicinchoninic acid. Anal Biochem 150: 76 - 85.
5. Van Gennip AH, Busch S, Elzinga L, et al (1993) Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation. Clin Chem 39: 380 - 385.
6. Van Kuilenburg ABP, Van Lenthe H, Van Gennip AH (1996) Idntification and tissue-specific expression of a NADH-dependent activity of dihydropyrimidine dehydrogenase in man. Anticancer Res 16: 389 - 394.