Visit Metagene.de!
Summary
DIHYDROPYRIMIDINASE DEFICIENCY (DPYSD)
DIHYDROPYRIMIDINURIA
222748
OMIM = Online Medalian Inheritance of Men
38874
8q22.3

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • no specific treatment
very rare
autosomal recessive
mutation in the DPYS gene
symptoms
clubfoot
dysmorphism
feeding difficulties, poor feeding
growth retardation
hypotonia
mental retardation
metabolic acidosis
microcephaly (<2 SD for age)
onset, infancy
plagiocephaly
seizures
skeletal changes, skeletal abnormalities
speech development, delayed, abnormal
laboratory finding
Dihydrothymine increasedcerebrospinal fluid
Dihydrouracil increasedcerebrospinal fluid
MRI, brain, white matter abnormalities - ---
Uracil 2.0022.00increasedurine
Thymine 0.002.00increasedurine
Dihydrouracil0.000.000.000.00increasedurineno data
Dihydrothymine0.000.000.000.00increasedurineno data
Uric acid0.000.00 normal-increasedurineno data
Tyramine0.000.00 increasedurineno data
Dihydrouracil0.000.00 increasedplasma
Dihydrothymine0.000.00 increasedplasma
Literature
Clayton PTet al.Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosisJ Inherit Metab Dis256501-5132002
Gibson KMCraigen W, Herman GE, Jakobs CD-2-Hydroxyglutaric Aciduria in a Newborn with Neurological Abnormalities: A New Neurometabolic Disorder?J Inherit Metab Dis160497-5001993
van Geet Cet al.Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complicationsJ Inherit Metab Dis244477-4922001
von Bahr Set al.Mutation in the sterol 27-hydroxylase gene associated with fatal cholestasis in infancyJ Pediatr Gastroenterol Nutr404481-4862005
Parikh S,et al.A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathiesMol Genet Metab1144501-5152015
Siman-Tov Tet al.Could steroids mask the diagnosis of cerebrotendinous xanthomatosis?J Neurol Sci243083-862006
Lorincz MTet al.Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognizedArch Neurol6291459-14632005
Gazzolo Det al.Urinary S100B protein measurements: A tool for the early identification of hypoxic-ischemic encephalopathy in asphyxiated full-term infantsCrit Care Med321131-1362004