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3-methylglutaconic Acid - MedlinePlus Genetics

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Last Updated: 10 May 2022

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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 occur in affected individuals. In some instances, signs and symptoms of 3-methylglutaconyl-CoA hydratase deficiency begin in adulthood, most prominently in the twenties or thirties of a person. These people have damage to white matter, which is a form of brain tissue. Those people with 3-methylglutaconyl-CoA hydratase deficiency in childhood are likely to experience leukoencephalopathy and other neurological disorders in adulthood. People with 3-methylglutaconic acid deficiency (3-6), as well as other 3-methylglutaconic acid-based substances in their body fluids. Hydrogenyl-CoA hydratase deficiency is one of a group of metabolic disorders that can be diagnosed by elevated levels of 3-methylglutaconic acid in urine. People with 3-methylglutaconyl-CoA hydratase deficiency also have elevated urinary levels of another acid, 3-methylglutaric acid.

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


MEGDEL syndrome

MEGDEL syndrome is an inheritable condition that affects multiple organ systems. People with MEGDEL syndrome also have elevated urine levels of 3-methylglutaric acid, which is another form of calcium. Individuals with MEGDEL syndrome develop hearing loss as a result of inner ear changes in infancy; however, hearing difficulties gradually worsened as time passes. Brain dysfunction is also a part of MEGDEL syndrome. Infants with MEGDEL syndrome later develop involuntary muscle tensing and muscle stiffness, which have progressively increased with time. Individuals with MEGDEL syndrome have intellectual impairment and never learned to speak. People with MEGDEL syndrome have brain changes that mimic those in another condition, Leigh syndrome. Individuals with MEGDEL syndrome have no life expectancy, according to the health.

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


Dilated cardiomyopathy with ataxia syndrome

The majority of people with DCMA syndrome have dilated cardiomyopathy, which is a condition that weakens and enlarges the heart, hindering it from pumping blood properly. Some affected people may also have long QT syndrome, a heart disease that causes the cardiac muscle to take longer than normal to recover between beats, as shown by the cardiac muscle. Heart problems improve with age, but in the majority of cases of DCMA syndrome, patients do not recover from childhood due to heart disease. A small minority of people with DCMA syndrome have no heart disease at all. Children with DCMA syndrome have a problem with coordination and balance by age 2, and children with DCMA syndrome have a difficult time with coordination and balance by age 2. These mobility difficulties may result in motor skills such as standing and walking, but older children with DCMA syndrome can walk alone. Short stature is common among heart and mobility issues, the majority of people with DCMA syndrome develops slowly before and after birth, contributing to short stature. On the underside of the penis, many males with DCMA syndrome have genital abnormalities such as undescended testes or the urethra opening. DCMA syndrome is characterized by elevated blood levels of a drug called 3-methylglutaconic acid, which is associated with elevated levels of 3-methylglutaconic acid in the urine. 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 urinary levels of 3-methylglutaric acid, which is also present in urine.

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


Barth syndrome

Barth syndrome is present virtually in males. Dilated cardiomyopathy is often present at birth or develops within the first months of life in males with Barth syndrome. Individuals with Barth syndrome may have elastic fibers in place of muscle fibers in certain areas of the heart muscle, which contributes to the cardiomyopathy. Heart disease can cause heart failure in people with Barth syndrome. In rare cases, the cardiomyopathy improves with time, and the affected individuals have no signs of heart disease. Neutropia is present in the majority of males with Barth syndrome. White blood cell levels can be consistently low, can fluctuate from low to low, or can fluctuate between episodes of normal and low. Some boys with Barth syndrome have a growth spurt in puberty and are of average height as adults, but some men with Barth syndrome have short stature in adulthood. Males with Barth syndrome have prominent facial features, such as prominent cheeks. Males with Barth syndrome have elevated levels of 3-methylglutaconic acid in their blood and urine, which has an elevated prevalence of 3-methylglutaconic acid. Despite the fact that most aspects of Barth syndrome are present at birth or infancy, affected individuals may not experience health problems until later in life. Individuals with Barth syndrome who have symptoms or are not diagnosed may have a variety of health problems. Males with Barth syndrome have a shorter life expectancy.

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


Costeff syndrome

This optic nerve atrophy often begins in infancy or early childhood, with results in vision impairment that persists over time. Speech difficulties can also be present in affected individuals. While some people with Costeff syndrome have mild to moderate intellectual impairment, many have normal intelligence. Costeff syndrome sufferers develop in late childhood and include muscle cramps, impaired muscle coordination, and voluntary jerking movements. Individuals with Costeff syndrome may need wheelchair assistance as a result of these mobility difficulties. Costeff syndrome is associated with elevated amounts of a chemical called 3-methylglutaconic acid in the urine, which is attributed to an increase in the presence of 3-methylglutaconic acid in the urine. Costeff syndrome is one of a series of metabolic disorders that can be traced by 3-methylglutaconic aciduria. People with Costeff syndrome also have elevated amounts of another acid, 3-methylglutaric acid, in their urine.

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


CLPB deficiency

Clinch Defiency Syndrome is a rare condition characterized by neurological disorders and a lack of infection-fighting white blood cells. In infanthood and often at birth, characteristics of CLPB deficiency are present in the most severely affected group. People affected by myelodysplastic syndrome, a type of blood cancer called leukemia, are at risk of developing a blood cell disorder called myelodysplastic syndrome, or leukemia. Epilepsy and moderate to severe educational inability are two other signs of moderate CLPB deficiency. Calcium deposits in the kidneys or kidney cysts are found by some people with mild CLPB deficiency. Many people with mild, moderate, or severe CLPB deficiency have clouded the lenses of the eyes from birth or in infancy. Increased levels of a drug called 3-methylglutaconic acid (IN the urine) are associated with increased amounts of a protein called 3-methylglutaconic acid.

Source link: https://medlineplus.gov/genetics/condition/clpb-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