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Summary
GOUT
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1 UAQTL1
138900
OMIM = Online Medalian Inheritance of Men
4q22.1

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
multifactorial X-linked recessive
autosomal dominant?
symptoms
arthritis
nephrosis
onset, adulthood
solitary or localized skin defect
urolithiasis, kidney stones
laboratory finding
Uric acid6.0012.000.605.50mg/dlserum
Uric acid 820.001026.00increasedurine
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Miyajima HTakahashi Y, Kono SAceruloplasminemia, an inherited disorder of iron metabolismBiometals161205-2132003
Quintana Eet al.Comparison between high performance liquid chromatography and capillary zone electrophoresis for the diagnosis of congenital disorders of glycosylation.J Chromatogr B Analyt Technol Biomed Life Sci877242513-25182009
Babovic-Vuksanovic DOBrien JFLaboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoformsMol Diagn Ther115303-3112007
Eklund EAet al.Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathologyJ Pediatr1476847-8502005
Vesela Ket al.A new case of ALG8 deficiency (CDG Ih)J Inherit Metab Dis002009
St+Âlting Tet al.Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih002009
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Eklund EAet al.Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutationBiochem Biophys Res Commun3393755-7602006