Aminoacidurias: Clinical and molecular aspects.
review · Level V
Where this comes from
- Record sourced from PubMed, PMID 18200002.
- Also identified by DOI 10.1038/sj.ki.5002790.
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Abstract
Inherited aminoacidurias are caused by defective amino-acid transport through renal (reabsorption) and in many cases also small intestinal epithelia (absorption). Recently, many of the genes causing this abnormal transport have been molecularly identified. In this review, we summarize the latest findings in the clinical and molecular aspects concerning the principal aminoacidurias, cystinuria, lysinuric protein intolerance, Hartnup disorder, iminoglycinuria, and dicarboxylic aminoaciduria. Signs, symptoms, diagnosis, treatment, causative or candidate genes, functional characterization of the encoded transporters, and animal models are discussed.
Medical subject headings
- Amino Acids
- Renal Aminoacidurias