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Summary
DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DHPD)
THYMINE-URACILURIA, HEREDITARY5-FLUOROURACIL TOXICITY
274270
OMIM = Online Medalian Inheritance of Men
1675
1p21.3

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • no specific treatment
rare
autosomal recessive
unexpected severe 5FU toxicity
symptoms
behavior, autism or autistic-like
epilepsy
failure to thrive
feeding difficulties, poor feeding
growth retardation
hepatomegaly (large liver)
hypertonia, spasticity
mental retardation
microcephaly
microphthalmus
motor retardation
nystagmus
onset, adult
onset, child
optic atrophy
Organic acids, urine
seizures
laboratory finding
5-Hydroxymethyluracil0.000.00 increasedurineno data
Uracil50.00150.002.0022.00mmol/mol creatinineurine
Thymine20.0080.000.002.00mmol/mol creatinineurine
EEG abnormalities -
Uric acid0.000.00 normal-increasedurineno data
Literature
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Suzuki YSakuraba H, Oshima A+ƒ-Galactosidase deficiency (+ƒ-galactosidosis): GM1 Gangliosidosis and Morquio B diseaseThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.2902785-28231995
dAzzo AAndria G, Strisciuglio P, Galjaard HGalactosialidosisThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.2912825-28371995
Gravel RAClarke JTR, Kaback MM, Mahuran D, Sandhoff K, Suzuki KThe GM2 gangliosidosesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.2922839-28791995
Gunay-Aygun M3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical featuresMol Genet Metab8411-32005
Engelke UFet al.NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolismNMR Biomed192271-2782006
Fink NMouallem MCosteff syndrome: a syndrome that was described in Israel and the responsible gene discovered by an Israeli doctorHarefuah1456402-4032006
Shin YSGalactose Metabolites and Disorders of Galactose MetabolismTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00267-2831991
Donati MAet al.Barth syndrome presenting with acute metabolic decompensation in the neonatal periodJ Inher Met Dis002006
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994