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Summary
UROCANASE DEFICIENCY
UROC
276880
OMIM = Online Medalian Inheritance of Men
210128
3q21.3
rare
autosomal recessive
symptoms
ataxia
mental retardation
nystagmus
short stature
tremor or twitching
laboratory finding
Urocanic Acid0.000.00 increasedurine
Urocanoylglycine0.000.00 increasedurine
Literature
Fajans SSBell GI, Polonsky KSMolecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the youngN Engl J Med34513971-9802001
Guillen Met al.Identification of novel SLC3A1 gene mutations in Spanish cystinuria families and association with clinical phenotypesClin Genet673240-2512005
Knoll Tet al.Cystinuria in childhood and adolescence: recommendations for diagnosis, treatment, and follow-upPediatr Nephrol20119-242005