Histidinemia. A deficiency in histidase resulting in the urinary excretion of histidine and of imidazolepyruvic acid.
D000581:Amidohydrolases / Q000172:deficiency*; D000592:Amino Acid Metabolism, Inborn Errors; D006639:Histidine / Q000097:blood*; D006638:Histidine Ammonia-Lyase / Q000172:deficiency; D006801:Humans; D007093:Imidazoles / Q000652:urine*; D008607:Intellectual Disability; D011773:Pyruvates / Q000652:urine*
D007093:Imidazoles; D011773:Pyruvates; C433263:imidazolepyruvic acid; D006639:Histidine; D000581:Amidohydrolases; D006638:Histidine Ammonia-Lyase
AMIDASES/deficiency; HISTIDINE/blood; IMIDAZOLES/urine; PYRUVATES/urine