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Argininemia is a rare genetic disease caused by a missing or defective enzyme named arginase. This disease is classified as a nutritional or metabolic disorder because it is caused by an inability of the body to break down protein. High levels of ammonia (a product of the break down of protein) affect a person’s level of consciousness and cause other problems with the neurologic system. ...

Argininosuccinic Aciduria (ASA) is a rare, genetic disorder that affects the metabolism of nitrogen. Nitrogen comes from the protein found in our diet or from the breakdown of protein in our body that occurs when we are sick. Nitrogen from these sources is usually in the form of a chemical called ammonia. Ammonia must be removed from the body and for this to happen it must first be converted in...

An Arnold-Chiari Malformation (ACM) occurs when the brain forms incorrectly. This abnormality occurs very early in pregnancy, when the brain is still forming. This malformation involves the base, or bottom, of the brain, where the skull and the spine meet. This malformation results in some of the brain’s structures being moved downward into the spinal canal. This pushing down of the brain into th...

Arthrogryposis is a rare, often inherited, condition that is characterized by the presence of multiple joint contractures that result in limitations in movement throughout the entire body. These joint problems, present at birth, are usually a result of decreased movement of the baby during pregnancy. There are many causes of this disorder and it can result from nerve, muscle, connective tissue, o...

Aspartylglycosaminuria is a very rare, inherited disorder that most commonly affects children. It is characterized by the progressive development of abnormal facial features, deformities of the extremities, and mental retardation. This disease is considered to belong to a class of genetic disorders known as lysosomal storage diseases. A common feature of lysosomal storage diseases is the accumula...

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Full disease list by letter:
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