What gene changes cause argininemia?
Argininemia is caused by gene changes in the ARG1 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.
To find a medical professional nearby who can discuss information about gene changes in the ARG1 gene and argininemia, a listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/argininemia/causes/36485 • DATE UPDATED: 2019-06-17
Arginase Deficiency. Genetics Home Reference website. https://ghr.nlm.nih.gov/condition/arginase-deficiency
Arginase Deficiency. The National Organization for Rare Disorders website. https://rarediseases.org/rare-diseases/arginase-deficiency
Argininemia. The Online Mendelian Inheritance in Man (OMIM) website. https://www.omim.org/entry/207800