Histidinuria renal tubular defect syndrome

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Histidinuria-renal tubular defect syndrome
Other namesRenal 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]

References

  1. ↑ "Histidinuria renal tubular defect". 16 June 2022.
  2. ↑ "histidinuria due to a renal tubular defect - BugSigDB". bugsigdb.org. 3 November 2021.
  3. ↑ "Histidinuria renal tubular defect - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on February 8, 2017. Retrieved 2022-09-06.
  4. ↑ 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)
  5. ↑ "Entry - %235830 - HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT - OMIM". omim.org. Retrieved 2022-09-06.
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