Argininosuccinic aciduria


What gene changes cause argininosuccinic aciduria?

Argininosuccinic aciduria is caused by gene changes in the ASL gene. People have about 20,000-25,000 genes in their bodies. Our genes contain our body's genetic information, called DNA; genes are segments of DNA found on chromosomes. Genes are inherited from our parents and passed on to our children. Genes are like our body's instruction manual - they control the growth, development and normal function of the body. Genes produce specific proteins that the body needs to grow and work properly. When there is an unexpected change in a gene, the protein that the gene produces may be absent or not work properly or be overproduced. A common type of gene change is a mutation, in which the DNA sequence that makes up a gene is altered. Mutations can be different sizes and can alter a gene in different ways. Sometimes, a mutation can affect multiple genes.

To find a medical professional nearby who can discuss information about gene changes in argininosuccinic aciduria, a listing of medical geneticists can be found at the American College of Medical Genetics and Genomics website and genetic counselors can be found on the National Society of Genetic Counselors website in the United States, and in Canada at the Canadian Association of Genetic Counsellors website.

Nagamani SCS, Erez A, Lee B. Argininosuccinate Lyase Deficiency. GeneReviews website. Accessed July 1, 2017.

argininosuccinic aciduria. Genetics Home Reference website. Accessed July 1, 2017.

What is a gene mutation and how do mutations occur? Genetics Home Reference website. Accessed July 2, 2017.

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