MeSH Browser

MeSH Supplementary: Histidinuria renal tubular defect
Unique ID: C538321
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538321
Entry Term(s): Histidinuria due to a Renal Tubular Defect; Renal histidinuria
Registry Number: 0
Heading Mapped to: *Renal Aminoacidurias; Histidine / *urine
Frequency: 15
Note: 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
Date of Entry: 2010/08/25
Revision Date: 2016/09/29

Histidinuria renal tubular defect MeSH Supplementary Concept Data 2024