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.[3] Additional findings include intellectual disability, developmental delay, epilepsy, and mild congenital variations.[4] Only five cases (all male) from four families have been described in medical literature.[5]
| Histidinuria-renal tubular defect syndrome | |
|---|---|
| Other names | Renal histidinuria,[1] Histidinuria due to a renal tubular defect[2] |
| Specialty | Medical genetics |
| Causes | Medical genetics |
References
edit- ^ "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.
{{cite web}}: 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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