Arginase deficiency

Argininemia

Overview

Type of disease: Rare conditions

Argininemia (ARG) is a rare genetic condition, resulting from a mutation (error) in a person’s DNA. People with ARG are unable to breakdown the amino acid, arginine. Therefore, ARG is considered an amino acid condition. Amino acids are the “building blocks” of protein. They are created when the protein we get from food is broken down. We typically eat more protein than needed; therefore we often have more amino acids than we need. Enzymes (special proteins) breakdown the extra amino acids into organic acids and ammonia and then harmless products our body can get rid of. If one of the enzymes needed to breakdown the amino acid is missing or not working correctly, the amino acid builds up in our bodies. The buildup of these acids and ammonia can damage our body. In this case the enzyme, arginase, is unable to break down the amino acid, arginine, and unable to remove ammonia from the blood.

ARG is an autosomal recessive condition. Symptoms usually begin around 1 to 3 years of age, but may begin to noticeable during infancy. Symptoms include delayed growth, developmental delays, balancing trouble, tight muscles, irritability, poor appetite, vomiting, weak muscle tone, breathing trouble, trouble regulating body temperature, small head size, and hyperactivity. Treatment may include a special diet. Special foods or formulas may also be recommended. Early diagnosis has shown to be effective in improving the health of individuals with HMG. Many babies are screened at birth so that treatment may begin early, however the conditions included in newborn screening vary state by state. For more information, visit Baby’s First Test.Talk with your doctor about the most current treatments. Support groups also are a good source of information. A genetic counselor will help you understand the genetics.

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