Histidinuria renal tubular defect syndrome

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 namesRenal histidinuria,[1] Histidinuria due to a renal tubular defect[2]
SpecialtyMedical genetics
CausesMedical genetics

References

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  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. 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.