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Metabolic Disorders - MedlinePlus Genetics

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Last Updated: 23 April 2022

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Hypermethioninemia

Hypermethioninemia is a sign of a particular protein building block, called methionine, in the blood. Hypermethioninemia sufferers have a tendency not to have any signs. It can also result from liver disease or an inadequate diet of methionine from consuming large amounts of protein or a methionine-enriched infant formula. When it is not associated with other metabolic disorders or excess methionine in the diet, it is considered primary hypermethioninemia.

Source link: https://medlineplus.gov/genetics/condition/hypermethioninemia


MEGDEL syndrome

People with MEGDEL syndrome also have elevated urine levels of 3-methylglutaric acid, which is also present in 3-methylglutaric acid. People with MEGDEL syndrome in infancy experience hearing loss due to changes in the inner ear, and hearing difficulties gradually exacerbated as time progressed. Brain dysfunction is another sign of MEGDEL syndrome. Infants with MEGDEL syndrome receive intermittent muscle tensing and muscle tensing that have worsened over time. Individuals with MEGDEL syndrome have an intellectual impairment and never learn to speak. People with MEGDEL syndrome have brain abnormalities that mimic those in another condition known as Leigh syndrome. Other characteristics that are common in MEGDEL syndrome include low blood sugar in affected infants; liver problems in infancy; liver diseases in childhood, which can be severe but not improve by early childhood; and episodes of abnormally high amounts of lactic acid in the blood. Individuals with MEGDEL syndrome have no life expectancy, according to the website.

Source link: https://medlineplus.gov/genetics/condition/megdel-syndrome


3-methylglutaconyl-CoA hydratase deficiency

Opti atrophy, which is the degeneration of nerve cells that carry visual information from the eyes to the brain, can also affect affected individuals. In some instances, signs and symptoms of 3-methylglutaconyl-CoA hydratase deficiency appear in adulthood, often in a person's twenties or thirties. These people have damage to a form of brain tissue called white matter. Those people with 3-methylglutaconyl-CoA hydratase deficiency in childhood are likely to have leukoencephalopathy and other health problems in adulthood. All people with 3-methylglutaconic acid deficiency have large amounts of 3-methylglutaconic acid in their body fluids. One of a string of metabolic disorders that can be characterized by elevated levels 3-methylglutaconyl-CoA deficiency is 3-methylglutaconyl-CoA hydratase deficiency. People with 3-methylglutaconyl-CoA hydratase deficiency also have elevated urine levels of another chemical, 3-methylglutaric acid.

Source link: https://medlineplus.gov/genetics/condition/3-methylglutaconyl-coa-hydratase-deficiency


Costeff syndrome

This optical nerve atrophy often begins in infancy or early childhood, and results in vision loss that persists as time goes. Some people affected individuals have erratic and involuntary eye movements or eyes that do not appear in the same direction. Affected individuals may also have speech difficulties. Although some people with Costeff syndrome have mild to moderate intellectual impairment, most people with Costef syndrome have mild to moderate intellectual impairment, many have normal intelligence. Costeff syndrome sufferers develop in late childhood and include muscle cramps, decreased muscle coordination, and compulsory jerking movements. Individuals with Costeff syndrome may require wheelchair assistance as a result of these mobility difficulties. Costeff syndrome is one of a group of metabolic disorders that can be distinguished by the presence of 3-methylglutaconic aciduria. People with Costef syndrome also have elevated levels of 3-methylglutaric acid in their urine, which is also present in Costef syndrome.

Source link: https://medlineplus.gov/genetics/condition/costeff-syndrome


Dilated cardiomyopathy with ataxia syndrome

Ataxia syndrome, heart disease, mobility issues, and other characteristics common to multiple organ systems are all typical. Most people with DCMA syndrome experience dilated cardiomyopathy, which is a condition that decreases and enlarges the heart, preventing it from pumping blood efficiently. Some of the affected individuals may also have long QT syndrome, which is a heart disease that causes the cardiac muscle to take longer than normal to refill between beats. Heart disorders improve as time goes; nevertheless, in the majority of cases of DCMA syndrome, the affected individuals do not live beyond childhood due to heart disease. A small percentage of people with DCMA syndrome have no heart problems at all. Children with DCMA syndrome have a lack of coordination and balance by age 2, and they have a difficult time with coordination and balance. These mobility difficulties can delay motor skills such as standing and walking, but older children with DCMA syndrome can walk without assistance, but older children with DCMA syndrome can walk alone. Many people with DCMA syndrome have a tendency to obesity and mobility issues, and they also have a short stature before and after birth. On the underside of the penis, most males with DCMA syndrome have genital abnormalities, such as undescended testes or the urethra opening. DCMA syndrome is one of a group of metabolic disorders that can be diagnosed by elevated levels of 3-methylglutaconic acid in urine. People with DCMA syndrome also have elevated urine levels of 3-methylglutaric acid, a form of 3-methylglutaric acid.

Source link: https://medlineplus.gov/genetics/condition/dilated-cardiomyopathy-with-ataxia-syndrome

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions