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Metabolic disorder - MedlinePlus Genetics

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Last Updated: 23 June 2022

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Hypermethioninemia

Hypermethioninemia patients often do not have any signs. Some people with hypermethioninemia have intellectual impairment and other developmental difficulties; delays in motor skills such as standing or walking; muscle weakness; liver disease; liver disease; and urinary problems; can have a odor similar to boiled cabbage. It can also be caused by liver disease or an excessive dietary intake of methionine from consuming large amounts of protein or a methionine-enriched infant formula.

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


GRACILE syndrome

GRACILE syndrome is a chronic condition that begins before birth and can be severed before birth. In GRACILE syndrome, first-born growth is slowing. Over iron in the liver is a characteristic of GRACILE syndrome, which most likely began before birth, and is a factor in GRACILE syndrome. Infants with GRACILE syndrome have a buildup of lactic acid in the body within the first day of life. Babies with GRACILE syndrome have cholestasis, which is a reduced ability to produce and release bile, a digestive fluid that is reduced. In the first few months of life, Cholestasis causes irreversible liver disease.

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


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 develop hearing loss as a result of inner ear changes in infancy; hearing difficulties have gradually gotten worse over time. Brain abnormalities are another sign of MEGDEL syndrome. Infants with MEGDEL syndrome develop intermittent muscle tensing and muscle tensing, which has increased with time. Individuals with MEGDEL syndrome have an intellectual disorder and never learn to speak. Changes in the brain that mimic those in another disorder called Leigh syndrome have been seen in patients with MEGDEL syndrome. Low blood sugar in affected infants; liver problems in infancy; liver disease in childhood; and episodes of unusually high amounts of lactic acid in the blood are among the signs that can be present in MEGDEL syndrome. It's unclear how long people with MEGDEL syndrome live.

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


Costeff syndrome

Vision loss is mainly caused by degeneration of the optic nerves, which carry information from the eyes to the brain. This optical nerve atrophy often starts in infancy or early childhood, with resulting in vision loss that worsens over time. Affected individuals may also have speech difficulties. Although some people with Costeff syndrome have mild to moderate intellectual impairment, many people with Costeff syndrome have mild to moderate intellectual impairment, many have normal intelligence. In late childhood and early childhood, mobility difficulties in people with Costeff syndrome include muscle cramps, poor muscle coordination, and compulsory jerking movements. Individuals with Costeff syndrome may need wheelchair assistance as a result of these mobility challenges. Increased amounts of a drug called 3-methylglutaconic acid are found in the urine, which is connected to Costeff syndrome. People with Costef syndrome also have elevated amounts of 3-methylglutaric acid in their urine, which is also present in their urine.

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


3-methylglutaconyl-CoA hydratase deficiency

Also affected individuals can suffer optic atrophy, which is the degeneration of nerve cells that carry visual information from the eyes to the brain. In some cases, signs and symptoms of 3-methylglutaconyl-CoA deficiency begin in adulthood, most in the twenties or thirties of a person's twenties or thirties. These people have damage to white matter, a form of brain tissue. People with 3-methylglutaconyl-CoA hydratase deficiency in childhood are also susceptible to adulthood-onset leukoencephalopathy and other neurologic abnormalities. Both people with 3-methylglutaconyl-CoA deficiency have large quantities of a chemical called 3-methylglutaconic acid in their body fluids. Deficiency of 3-methylglutaconyl-CoA hydratase is one of a group of metabolic disorders that can be traced to elevated levels of 3-methylglutaconic acid in urine. People with 3-methylglutaconyl-CoA deficiency also have elevated urinary levels of 3-methylglutaric acid, which is also present in urine.

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


Dilated cardiomyopathy with ataxia syndrome

Most people with DCMA syndrome experience dilated cardiomyopathy, which is a condition that reduces the heart and increases the heart, and prevents it from pumping blood properly. Some affected individuals also have long QT syndrome, a heart disease that causes the cardiac muscle to take longer than normal to recharge between beats, which causes the heart muscle to take longer than normal. Heart diseases tend to improve over time, but in the majority of cases of DCMA syndrome, affected individuals do not live past childhood as a result of heart disease. A tiny minority of people with DCMA syndrome have no heart problems at all. Children with DCMA syndrome have a difficult time with coordination and balance by age 2, and those with DCMA syndrome have a difficult time with coordination and balance. Some older children with DCMA syndrome can walk alone, but most older children with mobility difficulties can walk without assistance. Most people with DCMA syndrome have a long stature and shrink slowly before and after birth, contributing to heart problems and mobility difficulties. On the underside of the penis, many males with DCMA syndrome have genital abnormalities such as undescended testes or the urethra opening. Increased levels of a drug called 3-methylglutaconic acid in the urine are common with DCMA syndrome. DCMA syndrome is one of a variety of metabolic disorders that can be traced by elevated levels of 3-methylglutaconic acid in urine. People with DCMA syndrome also have elevated urine traces of a different chemical, 3-methylglutaric acid.

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


Arginase deficiency

Arginase deficiency is an inherited disorder that causes amino acid arginine and ammonia to accumulate in the blood gradually. The nervous system is particularly sensitive to the effects of excess ammonia. About the age of 3, Arginase deficiency usually appears by about three years old. Ammonia can build up in the blood sooner if high protein meals or hunger caused by sickness or periods without food. Arginase deficiency signs and symptoms may be less prevalent in some patients, but they may not appear until later in life.

Source link: https://medlineplus.gov/genetics/condition/arginase-deficiency

* 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