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Summary
HISTIDINURIA
HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT HISTIDINURIA
235830
OMIM = Online Medalian Inheritance of Men
2158
unknown
very rare
autosomal recessive
symptoms
Amino acids, urine
hearing defect, deafness
mental retardation
myoclonus
no clinical signs or symptoms
seizures
laboratory finding
Histidine3.0027.0080.00295.00mmol/g creatinineurinenewborn
Literature
Van Hove JLet al.Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathyAm J Med Genet1112195-2012002
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Patti EDi Pierro E, Cappellini MDGene symbol: PPOX. Disease: variegate porphyriaHum Genet11501722004