Cystinuria Education

The articles posted here are a collection of cystinuria-relevant writings to help make sense of the underlying biology and physiology of the disease. These articles are continuously maintained to keep information both current and accurate. Link directly to the article via the alphabetical Table of Contents below, or scroll down the page for a brief description (and link) of each.

Articles

• Amino Acids
• The Basics of Cystine Stone Formation and Prevention
• The Molecular Basics of Cystinuria

Interviews and Communications

• Dr. Jay Tischfield on his Mouse Model for Cystinuria

Media Presentations

video The Genetics and Inheritance of Cystinuria (David Goldfarb, MD)
video Measuring Glomerular Filtration Rate (David Goldfarb, MD)
audio Dr. Paul Goodyer answers questions from parents of cystinuric children at the 2008 ICF Cystinuria Symposium (Paul Goodyer, MD)

The simplified structure of cystine


Amino Acids

Cysteine is an important amino-acid building block of proteins. It is also the problematic molecule in Cystinuria. Thus, Cystinuria related literature is largely focused on the research and discussion of amino acids. The Amino Acids article will help you familiarize yourself with the general structure and function of amino acids as well as how DNA and proteins are related. The article ends with a brief look at the structures of cysteine and cystine.

The Basics of Cystine Stone Formation and Prevention

To understand why stones form, we must first understand the concept of a solution. This article discusses the solvent/solute relationship with the help of a familiar childhood analogy, and outlines the three basic concepts of stone prevention.

The Molecular Basics of Cystinuria

This article serves as an introduction to the technical aspects of cystinuria. A key part of understanding cystinuria as a disease is knowing, on a molecular level, what cystinuria is, how it is caused, and how it is inherited. This easy-to-understand explanation of those topics should be a first stop for anyone interested in deepening their technical understanding of the disease.

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