Histidinuria-renal tubular defect syndrome | |
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Other names | Renal histidinuria, Histidinuria due to a renal tubular defect |
Specialty | Medical genetics |
Causes | Medical genetics |
Histidinuria-renal tubular defect syndrome is a rare genetic disorder characterized by histidinuria associated with the intestines' and the renal tubule's impaired ability of absorbing histidine. Additional findings include intellectual disability, developmental delay, epilepsy, and mild congenital variations. Only five cases (all male) from four families have been described in medical literature.
References
- "Histidinuria renal tubular defect". 16 June 2022.
- "histidinuria due to a renal tubular defect - BugSigDB". bugsigdb.org. 3 November 2021.
- "Histidinuria renal tubular defect - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-09-06.
- RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Histidinuria renal tubular defect syndrome". www.orpha.net. Retrieved 2022-09-06.
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: CS1 maint: numeric names: authors list (link) - "Entry - %235830 - HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT - OMIM". omim.org. Retrieved 2022-09-06.
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