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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 consistent clinical signs or symptoms
onset, childhood
onset, infancy
seizures
laboratory finding
L-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