| Histidinuria-renal tubular defect syndrome | |
|---|---|
| Other names | Renal histidinuria, [1] Histidinuria due to a renal tubular defect [2] |
| 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. [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". 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.
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |
| Histidinuria-renal tubular defect syndrome | |
|---|---|
| Other names | Renal histidinuria, [1] Histidinuria due to a renal tubular defect [2] |
| 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. [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". 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.
|
| This genetic disorder article is a stub. You can help Wikipedia by expanding it. |