Some of the most common inherited metabolic diseases include thyroid disease, cystinuria, and specific types of gout. Researchers and physicians also believe that the diseases albinism and phenylketonuria are also inherited. Due to great advances in genetic screening, many inherited metabolic diseases can be diagnosed during infancy, which can greatly enhance successful treatment.
Inherited metabolic gout is much more common in men than it is in women, and is usually indicated by high levels of uric acid in the bloodstream. It is often a painful condition that causes swelling in the joints, especially in the feet and toes. Those who suffer from gout may be completely free of symptoms for several months, then suddenly have attacks that can last for weeks. Gout is typically treated with oral anti-inflammatories or steroid injections.
Cystinuria is believed to be one of the most common causes of kidney stones, and unlike most inherited metabolic diseases, in order to be passed down, the gene must be present in both parents. Those with cystinuria have high levels of an amino acid called cysteine, which builds up in the kidneys and causes stones to form. The main approach to treatment for patients who suffer from cystinuria is stone prevention. In most cases, patients can remain free of kidney stones as long as they drink large amounts of water on a daily basis. If kidney stones do develop, an attempt is made to dissolve them with medication, but in some cases, hospitalization is required to remove the stones.
Thyroid disease describes both hypothyroidism and hyperthyroidism. With hypothyroidism, the thyroid gland is not producing enough thyroid hormone, which can result of lethargy, weight gain, and constipation. Hyperthyroidism occurs when the thyroid gland overproduces the hormone, which often leads to weight loss, bouts of diarrhea, hair loss, and nervousness. Treatment for thyroid disease typically includes medications that either restrict or elevate production of the thyroid hormone.
Phenylketonuria, often referred to as PKU, is one of the more serious inherited metabolic diseases. In some cases, it can lead to mental retardation and severe behavior problems. Patients with phenylketonuria are unable to process an amino acid called phenylalanine, which is crucial for healthy brain growth and development. Infants are routinely tested for this disease shortly after birth. If the test is positive, they are put on treatment regimens designed to keep phenylalanine at low levels.
Those who suffer from albinism have almost no color pigmentation in the skin, hair, or eyes. Unlike many inherited metabolic diseases, in most cases, children born with albinism have parents who do not suffer from the disease, as it sometimes may skip many generations. People with albinism are typically sensitive to light and may suffer from severe vision problems. Treatment primarily consists of protecting the skin and eyes from ultraviolent light.