Metabolic diseases are caused by impaired metabolism due to a lack of enzymes needed for metabolic pathways. There are many types of metabolic disorders, including Tay-Sachs, Lesch-Nyhan, and Kearns-Sayre syndromes. Symptoms vary widely, and treatment includes nutrition therapy, physical therapy, medications, and surgery. Early diagnosis and treatment can help patients live active lives.
Metabolic disease is an umbrella term for many different genetically inherited conditions in which metabolism is impaired. Basically, this results in an inability to initiate catabolism and anabolism, the two processes required to produce and use the energy needed for a variety of cellular functions. The main reason for this dysfunction is a reduced availability or even the complete lack of some enzymes needed to catalyze the correct metabolic pathways that trigger biochemical reactions inside the cells. Depending on the specific enzymes and metabolic pathways involved, disorders designated as metabolic diseases have numerous classifications. Many fall into the categories of defective amino acids, organic acids, carbohydrates, or lipid metabolism, but thousands of other types can occur for other reasons.
For example, Tay-Sachs is a type of metabolic disease caused by an insufficient amount of beta-hexosaminidase A, an enzyme that catalyzes the metabolic pathway for the metabolism of fatty acids called gangliosides. This leads to a toxic buildup of fatty acids in the brain, which slowly causes the nervous system and brain to deteriorate. Although Tay-Sachs is rare, it most commonly occurs in infants younger than six months and usually results in death within four years.
There are at least half a dozen different types of metabolic disorders that occur due to impaired glycogen storage, which is classified under impaired carbohydrate metabolism. Lesch-Nyhan syndrome, on the other hand, results from dysfunctional purine metabolism and leads to a condition known as hyperuricemia in which the body produces too much uric acid and causes damage to the kidneys. Kearns-Sayre syndrome and Zellweger syndrome are caused by defective mitochondrial and peroxisomal function, respectively. Examples of metabolic disorders involving amino acid metabolism include homocystinuria, phenylketonuria, and maple syrup urine disease. The latter condition is so named because a buildup of amino acid byproducts causes your sweat and urine to smell like maple syrup.
Symptoms of these and other types of disorders vary widely and can include kidney failure, enlarged liver, muscle pain, neuropathy, vision changes, bone malformations, and seizures. Whenever metabolic disease is suspected, the patient typically undergoes a variety of diagnostic tests, including neurological evaluation, blood tests, urine tests, electromyograms to measure muscle weakness, and MRIs of the brain. Treatment also varies depending on the type and severity of the disease, but typically includes nutrition therapy, physical therapy, medications, and, if there are muscle or bone abnormalities, surgery or a bone marrow transplant. Unfortunately, many types of metabolic diseases cannot be cured. However, with early diagnosis and appropriate treatment, many children and adults can enjoy active lives.
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