# What are inherited metabolic disorders? Canonical page: https://clinicsjo.com/en/faq/ma-hia-al-idhtirabat-al-aydiya-al-wirathiya Language: en Category: pediatrics Publisher: ClinicsJo Published: 2026-09-13T08:09:52.387Z Content updated: 2026-09-13T08:09:52.387Z Translation (ar): https://clinicsjo.com/ar/faq/ma-hia-al-idhtirabat-al-aydiya-al-wirathiya Inherited metabolic disorders are a group of conditions that occur when abnormal chemical reactions in the body disrupt normal metabolism. Metabolism is the process by which the body obtains or produces energy from the food we eat. Food is made up of proteins, carbohydrates, and fats, and chemicals in the digestive system break these components down into sugars and acids, which serve as the body's fuel. The body can use this fuel immediately, or it can store the energy in body tissues such as the liver, muscles, and fat. When disorders occur in this process, there may be too much of some substances or too little of others that are necessary to maintain health [\[1\]](). ## Understanding Metabolism and Genetic Disorders Inherited metabolic disorders are classified within a wide range of diseases that affect how the body processes nutrients. These disorders can affect the breakdown of amino acids, carbohydrates, or fats. There is also another group known as mitochondrial diseases, which affect the parts of cells responsible for energy production [\[1\]](). ## Examples of Inherited Metabolic Disorders Inherited metabolic disorders vary greatly and include many different conditions. For example, Lesch-Nyhan syndrome is a rare genetic condition that affects almost exclusively males, characterized by neurological and behavioral disturbances, as well as the overproduction of uric acid. The accumulation of excess uric acid can lead to gouty arthritis and the formation of kidney and bladder stones [\[3\]](). Another example is acatalasemia, a condition characterized by very low levels of the enzyme catalase. Many people with acatalasemia may not experience any health problems associated with the condition, but they have an increased risk of developing type 2 diabetes [\[2\]](). ## Causes of Inherited Metabolic Disorders Inherited metabolic disorders are usually caused by genetic mutations. These mutations can be inherited from parents or may occur randomly during cell division. For example, acatalasemia is caused by mutations in the CAT gene, which provides instructions for making the catalase enzyme, responsible for breaking down hydrogen peroxide molecules into oxygen and water. A deficiency in this enzyme leads to the accumulation of hydrogen peroxide to toxic levels in some cells, which can cause damage [\[2\]](). In the case of Lesch-Nyhan syndrome, the genetic mutations occur on the X chromosome, which explains why it affects males more frequently [\[3\]](). ## Importance of Early Diagnosis and Management Given the diversity of these disorders and their potential effects on various body systems, early diagnosis and effective management are crucial to improving the quality of life for affected individuals. Management may include dietary modifications, medications, or other therapies aimed at controlling symptoms and preventing complications. For example, in cases of acatalasemia, it is believed that the accumulation of hydrogen peroxide may damage beta cells in the pancreas, increasing the risk of type 2 diabetes [\[2\]](). For more information on early diagnosis and management, you can visit [Inherited Metabolic Disorders: Early Diagnosis and Management for a Normal Life (Arabic)](). If you suspect an inherited metabolic disorder, it is important to consult a specialized healthcare team. This team may include doctors specializing in genetics, nephrology, neurology, and others, depending on the nature of the disorder [\[3\]](). Collecting a family health history can help provide the care team with important information for an accurate diagnosis [\[3\]](). ## Medical references - [Metabolic Disorders]() - [Acatalasemia: MedlinePlus Genetics]() - [Lesch-Nyhan syndrome]() General health education; not a substitute for individualized clinical assessment. Citation URL: https://clinicsjo.com/en/faq/ma-hia-al-idhtirabat-al-aydiya-al-wirathiya#answer