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Disease	DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DHPD)
Synonym	THYMINE-URACILURIA, HEREDITARY
OMIM	274270 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Orphanet	Short summery, also for non professionals on www.orpha.net
Enzyme	dihydropyrimidine dehydrogenase Detailed enzyme information on www.expacy.ch
Gene locus	1p22 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Dihydropyrimidine dehydrogenase
genetests.org	search search on genetest.org by MIM 274270 search search on genetest.org by DIHYDROPYRIMIDINE Testing - View a listing of laboratories that provide clinical testing for this disorder
Summary	rare (>20 cases) autosomal recessive no clear correlation between genotype and phenotype (van Kuilenberg et al. 1999) familial pyrimidinemia and severe 5-fluorouracil-induced toxicity (cancer therapy)
Clinical symptoms	feeding difficulties, poor feeding growth retardation hypertonia, spasticity large liver mental retardation microcephaly microphthalmus nystagmus onset, adult onset, child Organic acids, urine seizures
Abnormal Findings in urine	5-Hydroxymethyluracil \| Significant : - increased Thymine Normal: 0.00-2.00 mmol/mol creatinine \| Significant : 20.00-80.00 mmol/mol creatinine Uracil Normal: 2.00-22.00 mmol/mol creatinine \| Significant : 50.00-150.00 mmol/mol creatinine
Treatment	no specific treatment
Literature	There are 6 publications available. Click here to open the relevant DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DHPD) publications
Ramedis Case reports with long term followup	There are 6 patient data available. Click here to open the list of DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DHPD) patients documented in Ramedis database