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Summary
OROTIC ACIDURIA, HEREDITARY
OROTIC ACIDURIA I OROTIC ACIDURIA II
258900
OMIM = Online Medalian Inheritance of Men
30
3q21.2

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • corticosteroids
  • uridine
rare
autosomal recessive
mutation in the UMPS gene
type I MIM 258900
type II MIM 258920 -> moved to 258900
symptoms
anemia
congenital heart defect
diarrhea
failure to thrive
growth retardation, poor growth
hematuria
hypotonia
infections (severe or recurrent)
mental retardation
neutropenia (decreased neutrophils)
onset, infancy
onset, neonatal
Organic acids, urine
stomatitis
strabismus
urolithiasis, kidney stones
ventricular septal defect
laboratory finding
Orotic acid1400.005600.000.0011.00mmol/mol creatinineurine
Hemoglobine7.0011.0012.0015.00g/dlblood
Orotic acid20.0070.000.000.50-Ámol/lplasma
Literature
Sakamoto O,et al.Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric AcidemiaTohoku J Exp Med2362103-1062015
Danpure CJMolecular aetiology of primary hyperoxaluria type 1Nephron Exp Nephrol982e39-442004
Kilic M,Kaymaz N, Oezguel RKIsovaleric acidemia presenting as diabetic ketoacidosis: a case reportJ Clin Res Pediatr Endocrinol6159-612014
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Ozgul RK,et al.Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemiaEur J Med Genet5710596-6012014