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Inherited metabolic diseases like thyroid disease, cystinuria, gout, albinism, and phenylketonuria can be diagnosed in childhood thanks to genetic screening. Gout causes painful swelling in joints, cystinuria causes kidney stones, thyroid disease affects hormone production, PKU can lead to mental retardation, and albinism causes sensitivity to light. Treatment varies for each disease.
Some of the more common inherited metabolic diseases include thyroid disease, cystinuria, and specific types of gout. Researchers and doctors also believe that the diseases albinism and phenylketonuria are also hereditary. Thanks to great advances in genetic screening, many inherited metabolic diseases can be diagnosed in childhood, which can greatly improve treatment success.
Hereditary metabolic gout is much more common in men than in women and is usually indicated by high levels of uric acid in the blood. It is often a painful condition that causes swelling in the joints, especially the feet and toes. Those with gout may be completely symptom-free 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 thought to be one of the most common causes of kidney stones, and unlike most inherited metabolic disorders, the gene must be present in both parents to be passed down. Those with cystinuria have high levels of an amino acid called cysteine, which builds up in the kidneys and causes stones to form. The primary approach to treatment for patients suffering from cystinuria is stone prevention. In most cases, patients can remain kidney stone free as long as they drink large amounts of water each day. If you develop kidney stones, attempts are 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 doesn’t make enough thyroid hormone, which can cause lethargy, weight gain, and constipation. Hyperthyroidism occurs when the thyroid gland overproduces the hormone, often leading to weight loss, bouts of diarrhea, hair loss, and nervousness. Treatment for thyroid disease typically includes medications that limit or elevate thyroid hormone production.
Phenylketonuria, often referred to as PKU, is one of the most serious inherited metabolic disorders. In some cases, it can lead to mental retardation and serious behavior problems. Patients with phenylketonuria are unable to process an amino acid called phenylalanine, which is crucial for healthy brain growth and development. Newborns 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 with albinism have almost no color pigmentation in their 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 can sometimes skip many generations. People with albinism are typically sensitive to light and can suffer from severe vision problems. Treatment mainly consists of protecting the skin and eyes from ultraviolet light.
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