Protein deficiency diseases are conditions resulting in low levels of particular proteins. The cause of protein deficiency diseases is often genetic, meaning that a person inherits a faulty or missing gene from a parent. There are several different types of protein deficiency diseases possible, and the symptoms of the disease depend on what type of protein is deficient.
Difficulty Breathing
One type of protein deficiency disease, alpha-1 antitrypsin deficiency, results in several symptoms affecting the lungs, including difficulty breathing and shortness of breath after mild activity. People with alpha-1 antitrypsin deficiency often have difficulty exercising or engaging in other strenuous activity, and may struggle with wheezing frequently. Other symptoms of alpha-1 antitrypsin deficiency include vision problems, unintentional weight loss, fatigue and frequent respiratory infections, explains the National Human Genome Research Institute.
Loss of Muscle Tone
Another type of protein deficiency disease, called mitochondrial trifunctional protein deficiency, causes several symptoms involving the body's ability to use energy, the Genetics Home Reference reports. The symptoms of mitochondrial trifunctional protein deficiency often begin during infancy, and typically include wasting away of muscle tone, lack of energy, difficultly feeding, low blood sugar and liver problems. Infants with mitochondrial trifunctional protein deficiency also frequently develop heart problems and breathing difficulties, and experience an increased risk of coma and sudden death.
Increased Blood Clotting
An increased risk of blood clotting is a symptom of congenital protein C or protein S deficiency, according to MedlinePlus. Proteins C and S are proteins found in the blood, and when a person inherits an abnormal version of one of these proteins, the blood easily develops blood clots, which are also known as deep venous thrombosis. The signs of a blood clot include swelling or redness around the clot, as well as pain and tenderness.
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