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Histidinuria renal tubular defect

A hereditary condition characterized by the abnormal excretion of HISTIDINE in urine due to impaired renal tubular absorption. Affected individuals may also experience MYOCLONIC EPILEPSY; intellectual disability, nerve deafness, and ear, finger, and toe abnormalities. OMIM: 235830
Also Known As:
Histidinuria due to a Renal Tubular Defect; Renal histidinuria
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Disease Context: Research Results