Visit Metagene.de!
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 (<2 SD for age)
microphthalmus
motor retardation
nystagmus
onset, adulthood
onset, childhood
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
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
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