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Published on: April 9, 2017
Aminoacidurias: Clinical and molecular aspects
S M R Camargo1, D Bockenhauer, R Kleta
1Institute of Physiology and Center for Integrative Human Physiology (ZIHP), University of Zurich, Zurich, Switzerland.
Kidney International
|January 18, 2008
Summary
Inherited aminoacidurias result from faulty amino acid transport in the kidneys and intestines. This review covers recent clinical and molecular findings for major aminoacidurias, including genes and treatments.
Area of Science:
- Genetics
- Molecular Biology
- Nephrology
Background:
- Inherited aminoacidurias stem from genetic defects in amino acid transport systems.
- These defects affect renal reabsorption and intestinal absorption of amino acids.
- Recent advances have identified many causative genes for these disorders.
Purpose of the Study:
- To review the latest clinical and molecular findings in principal inherited aminoacidurias.
- To discuss genetic causes, transporter functions, and animal models.
- To provide a comprehensive overview of cystinuria, lysinuric protein intolerance, Hartnup disorder, iminoglycinuria, and dicarboxylic aminoaciduria.
Main Methods:
- Literature review of recent clinical and molecular studies.
- Synthesis of information on diagnosis, symptoms, and treatment.
- Analysis of causative genes and functional characterization of transporters.
Main Results:
- Identification of numerous genes responsible for aminoacidurias.
- Detailed characterization of transport defects and their clinical manifestations.
- Development of animal models for studying disease mechanisms.
Conclusions:
- Significant progress has been made in understanding the genetic basis of inherited aminoacidurias.
- Molecular identification of genes has improved diagnosis and potential therapeutic strategies.
- Further research into transporter function and animal models is crucial for advancing treatment.
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