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Histidine transport defect

Last edited: 4/15/2026

Overview

Histidine transport defect is a rare genetic disorder characterized by impaired transport of histidine across cellular membranes, leading to metabolic disturbances and neurological symptoms due to histidine deficiency 2.

Diagnosis

  • Elevated histidine levels in plasma and urine 2.
  • Identification of specific genetic mutations in transporters involved in histidine transport 2.
  • Neurological and developmental assessments to detect symptoms 2.

    • Management

  • Dietary supplementation with histidine to correct deficiency 2.
  • Monitoring of metabolic parameters and clinical symptoms regularly 2.
  • Genetic counseling for families due to its hereditary nature 2.

    • Special Populations

  • No specific data provided regarding pregnancy, pediatrics, elderly, or comorbidities in the given abstracts 123.

    • Key Recommendations

  • Confirm diagnosis through genetic testing for mutations in histidine transport-related genes (Evidence: Moderate) 2.
  • Initiate histidine supplementation tailored to individual needs based on plasma and urine levels (Evidence: Moderate) 2.
  • Regular clinical and metabolic monitoring is essential for managing symptoms and adjusting treatment (Evidence: Expert opinion) 2.

    • References

    1 Amukele TK, Hernandez J, Snozek CLH, Wyatt RG, Douglas M, Amini R et al.. Drone Transport of Chemistry and Hematology Samples Over Long Distances. American journal of clinical pathology 2017. link 2 André P, Saubaméa B, Cochois-Guégan V, Marie-Claire C, Cattelotte J, Smirnova M et al.. Transport of biogenic amine neurotransmitters at the mouse blood-retina and blood-brain barriers by uptake1 and uptake2. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism 2012. link 3 Russell VE, Klein U, Reuveni M, Spaeth DD, Wolfersberger MG, Harvey WR. Antibodies to mammalian and plant V-ATPases cross react with the V-ATPase of insect cation-transporting plasma membranes. The Journal of experimental biology 1992. link

    Original source

    1. [1]
      Drone Transport of Chemistry and Hematology Samples Over Long Distances. — Amukele TK, Hernandez J, Snozek CLH, Wyatt RG, Douglas M, Amini R et al. American journal of clinical pathology (2017)
    2. [2]
      Transport of biogenic amine neurotransmitters at the mouse blood-retina and blood-brain barriers by uptake1 and uptake2. — André P, Saubaméa B, Cochois-Guégan V, Marie-Claire C, Cattelotte J, Smirnova M et al. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism (2012)
    3. [3]
      Antibodies to mammalian and plant V-ATPases cross react with the V-ATPase of insect cation-transporting plasma membranes. — Russell VE, Klein U, Reuveni M, Spaeth DD, Wolfersberger MG, Harvey WR The Journal of experimental biology (1992)
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