Dihydropyrimidine dehydrogenase deficiency presenting at birth

Journal of Inherited Metabolic Disease

Volumn 28, Issue 5, 2005, Pages 793-796

  Al Sanna'a, Nouriya A ^a   Van Kuilenburg, A B P ^b   Atrak, T M ^a   Jabbar, M A Abdul ^a   Van Gennip, A H ^b  

^a DHAHRAN HEALTH CENTER   (Saudi Arabia)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROPYRIMIDINE DEHYDROGENASE; THYMINE; URACIL;

ARTICLE; BLOOD SAMPLING; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DEVELOPMENTAL DISORDER; DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME DEGRADATION; GENE MUTATION; HOMOZYGOSITY; HUMAN; KARYOTYPING; LABORATORY DIAGNOSIS; LIMB DEFORMITY; MALE; NEUROIMAGING; NEUROLOGIC DISEASE; PRESCHOOL CHILD; PYRIMIDINE METABOLISM; URINALYSIS;

AGE OF ONSET; ANTIMETABOLITES; BINDING SITES; DIGESTIVE SYSTEM ABNORMALITIES; DIHYDROURACIL DEHYDROGENASE (NADP); FEMALE; FLUOROURACIL; GENES, RECESSIVE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MUSCULAR DISEASES; MUTATION; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; THYMINE; URACIL;

EID: 25144480878     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-005-4218-0     Document Type: Article

References (5)

1. Bakker HD, Rubio Gozalbo ME, Van Gennip AH (1994) Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation and ocular abnormalities. J Inherit Metab Dis 17: 640-641. 10.1007/BF00711611
2. Van Kuilenburg ABP, Vreken P, Abeling NG, et al (1999a) Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Hum Genet 104: 1-9.
3. Van Kuilenburg ABP, Vreken P, Riva D, et al (1999b) Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenease deficiency due to homozygosity for C29R mutation. J Inherit Metab Dis 22: 191-192. 10.1023/A:1005470524203
4. Wadman SK, Berger R, Duran M, et al (1985) Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism. J Inherit Metab Dis 8 (Supplement 2): 113-114. 10.1007/BF01811484
5. Wilcken B, Hammond J, Berger R, Wise G, James C (1985) Dihydropyrimidine dehydrogenase deficiency - a further case. J Inherit Metab Dis 8 (Supplement 2): 115-116. 10.1007/BF01811485