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Summary
UROCANASE DEFICIENCY (UROCD)
276880
OMIM = Online Medalian Inheritance of Men
210128
3q21.3
rare
autosomal recessive
mutation in the UROC1 gene
symptoms
ataxia
intellectual disability/intellectual developmental disorder (ID/ IDD)
mental retardation
no consistent clinical signs or symptoms
nystagmus
onset, infancy
onset, neonatal
short stature
tremor or twitching
laboratory finding
Urocanic Acid0.000.00 mmol/mol creatinineurine
Urocanoylglycine0.000.00 mmol/mol creatinineurine
Literature
Fajans SSBell GI, Polonsky KSMolecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the youngN Engl J Med34513971-9802001
Alshoaiby AN,et al.Anesthetic management of a case of Sanjad-Sakati syndromeSaudi J Anaesthq104453-4552016
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