What Are Inherited Metabolic Disorders?

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  • Written By: Meshell Powell
  • Edited By: Melissa Wiley
  • Last Modified Date: 20 December 2018
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Inherited metabolic disorders are a group of genetic medical conditions that are characterized by abnormalities concerning certain chemical reactions within the body. Some of the most common types of inherited metabolic disorders include phenylketonuria, cystinuria, and albinism. Thyroid disease is also included in this category. Symptoms of these disorders may vary widely, although many of the potential symptoms can be detected during infancy. Treatment depends on the type of disorder present as well as the individual symptoms and their severity.

Phenylketonuria, often referred to as PKU, is among the most common inherited metabolic disorders. In this condition, the body cannot properly break down a type of protein known as phenylalanine, causing it to build up in the body. This abnormal protein buildup can lead to brain and central nervous system problems. Fortunately, a simple blood test shortly after birth is extremely effective in diagnosing PKU so that treatment can begin before any negative side effects have taken place. This condition can be effectively treated with a specialized diet that is low in protein.


Cystinuria is also among the possible inherited metabolic disorders. This disorder causes stones to develop in the kidneys, bladder, and ureters due to an increased level of an amino acid known as cystine. Symptoms often include pain in the back or abdominal regions of the body, and there my sometimes be a noticeable amount of blood in the urine. Treatment may involve the use of over-the-counter or prescription medications, increased fluid intake, or surgical intervention.

Another one of the more common inherited metabolic disorders is a condition known as albinism. Albinism is characterized by a partial or total absence of pigment of the skin, hair, and eyes. Vision problems and skin sensitivity are common among those with this type of genetic disorder. Frequent medical exams and vision screenings are important for those with albinism. Sunscreen and protective clothing are also necessary in order to protect the skin from the rays of the sun.

Some forms of thyroid disease can be among the possible inherited metabolic disorders. The thyroid gland is responsible for the production and regulation of certain hormones within the body. Hormone replacement therapy is frequently useful in treating this condition. The exact medications used depend on whether the thyroid gland is producing too much or too little of the involved hormone. Any questions or concerns about the various possible inherited metabolic disorders should be discussed with a doctor or other medical professional.



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