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Summary
OROTIC ACIDURIA, HEREDITARY
ACIDEMIA, OROTIC
258900
OMIM = Online Medalian Inheritance of Men
30
3q13

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • corticosteroids
  • uridine
rare autosomal recessive type I MIM 258900 type II MIM 258920 therapy: uridine supplementation (100-200 mg/day) steroids (?)
symptoms
anemia
congenital heart defect
failure to thrive
growth retardation
hematuria
hypotonia
mental retardation
neutropenia (decreased neutrophils)
Organic acids, urine
stomatitis
strabismus
urolithiasis
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
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