What are the different types of metabolic disease?

Metabolic disease is a dozen for many different genetically inherited states in which the metabolism is disturbed. In principle, this is reflected in the inability to initiate catabolism and anabolism, which is two processes necessary to produce and use the energy needed for various cellular functions. The primary reason for this dysfunction is reduced availability or even a complete lack of certain enzymes needed to catalyze the right metabolic pathways that trigger biochemical reactions in cells. Depending on specific enzymes and metabolic pathways involved, disorders marked as metabolic disease have numerous classification. Many people fall into the categories of defective amino acids, organic acids, carbohydrate or lipid metabolism, but for other reasons thousands of other types may occur.

For example, Tay-Sachs is one type of metabolic disease that is caused by insufficient amount of beta-hexosaminidase A, an enzyme that catalyzes the metabolic pathway for The Metabolismfatty acids called gangliosides. This leads to the toxic accumulation of fatty acids in the brain, which slowly causes worsening of the nervous system and brain. Although Tay-Sachs is rare, it is most common in infants under six months of age and usually causes death within four years.

There are at least half a dozen of different types of metabolic disorders that occur due to impaired glycogen storage, which is classified in impaired carbohydrate metabolism. Forest - nyhan syndrome, on the other hand, is the result of dysfunctional metabolism of purine and leads to a condition known as hyperuriceemia, in which the body causes too much uric acid and causes renal damage. The Kearns-Sayre syndrome and the Zellweger syndrome are caused by the wrong mitochondrial and peroxisomal function. Among examples of metabolic disorders involving amino acid metabolism include homocystinuria, phenylketonuria and M diseasesEyes of maple syrup. The latter state is named because the accumulation of by -products of amino acids causes sweat and urine to smell like maple syrup.

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symptoms of these and other disorders differ greatly and may include kidney disorder, enlarged liver, muscle pain, neuropathy, visual visual disorders, bone malformation and seizures. Whenever a metabolic disease is suspected, the patient usually undergoes a number of diagnostic tests, including neurological evaluation, blood tests, urine tests, electromyogram to measure muscle weakness and magnetic resonance imaging. Treatment also varies depending on the type and severity of the disease, but usually involves nutritional therapy, physical therapy, medicines and, in the case of abnormalities of muscles or bones, surgery or bone marrow transplantation. Unfortunately, many types of metabolic diseases cannot be cured. However, with timely detection and appropriate treatment, many and adults can enjoy an active life.