Methylmalonic aciduria is seen in a deficiency of?
Domanda di: Joannes Bianchi | Ultimo aggiornamento: 25 gennaio 2022Valutazione: 4.2/5 (69 voti)
Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism that occurs mostly in neonatal age, with megaloblastic anemia, lethargy, growth /development delay, cognitive deficiency and seizures, acute visual and neurological deterioration.
What enzyme is deficient in methylmalonic acidemia?
Methylmalonic acidemia (MMA) is usually caused by a deficiency of the enzyme methylmalonyl-CoA mutase (MCM, EC 5.4.
How is methylmalonic acidemia diagnosis?
Methylmalonic acidemia can be diagnosed through newborn screening . Almost every state in the United States screens for this disorder. Additional testing required for diagnosis may include: Biochemical testing for abnormal levels of specific chemicals.
Is methylmalonic acidemia a genetic disorder?
Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening.
What is methylmalonic aciduria?
Methylmalonic acidemia is a disorder in which the body cannot break down certain proteins and fats. The result is a buildup of a substance called methylmalonic acid in the blood. This condition is passed down through families. It is one of several conditions called an "inborn error of metabolism."
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How is MMA treated?
Methylmalonic acidemia is treated primarily with a low-protein, high-calorie diet, certain medications, antibiotics and in some cases, organ transplantation. Medication treatment consists cobalamin (vitamin B12) given as an injection, carnitine, and antibiotics.
What is methylmalonic acid and homocysteine?
In adults, total homocysteine (tHcy) and methylmalonic acid (MMA) in serum or plasma are sensitive markers of cobalamin status and are used for the diagnosis and follow-up of cobalamin deficiency (1–3). tHcy is also elevated in folate deficiency and is used as an indicator of this deficiency state (2, 4).
What causes MMA?
Methylmalonic acidemia (MMA) is an inherited condition caused by a faulty gene. Children with MMA lack a protein that the body needs to break down fats and cholesterol inside cells. As a result, these substances build up in cells, causing damage to the brain, liver, kidneys, and other organs that gets worse over time.
What is pernicious anemia caused by?
A lack of vitamin B12 (vitamin B12 deficiency) causes the signs and symptoms of pernicious anemia. Without enough vitamin B12, your body can't make enough healthy red blood cells, which causes anemia.
What is homocystinuria?
Homocystinuria (HCU) is a rare but potentially serious inherited condition. It means the body can't process the amino acid methionine. This causes a harmful build-up of substances in the blood and urine.
What is the prevalence of methylmalonic acidemia?
Prevalence of methylmalonic acidemia has been estimated at 1/48,000 to 1/61,000 in North America, and at 1/26,000 in China (these values may include patients with methylmalonic acidemia with homocystinuria; see this term).
What does a methylmalonic acid test show?
What is it used for? An MMA test is most often used to diagnose a vitamin B12 deficiency. This test is also used to diagnose methylmalonic acidemia, a rare genetic disorder. Symptoms of this disorder can range from mild to severe and may include vomiting, dehydration, developmental delays, and intellectual disability.
How do you diagnose pernicious anemia?
Your doctor may draw a sample of your blood to check for antibodies to intrinsic factor. Their presence indicates pernicious anemia. Methylmalonic acid test. You may undergo a blood test to measure the presence of a substance called methylmalonic acid.
What is the difference between pernicious anemia and B12 deficiency?
Pernicious anemia involves autoimmune inflammation in the stomach and the inability to absorb vitamin B12 in the small intestine. While vitamin B12 deficiency anemia may be caused by a lack of vitamin B12 in the diet, pernicious anemia is caused by an inability to absorb vitamin B12.
What causes intrinsic factor deficiency?
Intrinsic factor deficiency is caused by changes ( mutations ) in the GIF gene and is inherited in an autosomal recessive manner. Treatment generally consists of vitamin B12 injections.
What causes high methylmalonic acid?
Causes of high MMA include: B12 deficiency, most often due to a B12-poor diet, issues with nutrient absorption, or drugs that deplete B12 levels (e.g. metformin) [2, 28] Poor kidney function. Kidneys that are not working properly can't filter MMA into the urine, causing it to accumulate in the blood [3]
Is methylmalonic acidemia dominant or recessive?
Methylmalonic acidemia has an autosomal recessive pattern of inheritance. Methylmalonic acidemia is caused by a defect in the vitamin B12-dependent enzyme methylmalonyl CoA mutase.
Is methylmalonic acid high in folate deficiency?
Serum homocysteine and methylmalonic acid (MMA) levels are helpful confirmatory tests for cobalamin and folate deficiencies. Both are increased in cobalamine deficiency. Homocysteine but not MMA is increased in folate deficiency.
Why is homocysteine high in folate deficiency?
In the second reaction, homocysteine is converted to methionine by using vitamin B12 and folic acid as cofactors. In this reaction, a deficiency of vitamin B12 or folic acid may lead to increased homocysteine levels. FIGURE 1. Vitamin B12 deficiency leads to a serum build-up of methylmalonic acid.
Is homocysteine raised in folate deficiency?
The concentration of total homocysteine (tHcy) in serum and plasma is elevated in both folate and cobalamin deficiencies, whereas methylmalonic acid (MMA) in serum, plasma, or urine is a specific marker of cobalamin function.
Where is intrinsic factor produced?
Intrinsic factor is a protein that helps your intestines absorb vitamin B12. It is made by cells in the stomach lining.
What is meant by intrinsic factors?
Intrinsic factors include the genetic, physiological, and pathological characteristics of an individual; in other words, these are traits that are “intrinsic” to a person rather than being determined by that person's environment.
Can pernicious anemia cause joint pain?
Speaking to Sakal Times, Dr Neeraj Adkar, an orthopedist with the Saishree Hospital, said that vitamin B12 deficiency leads to pernicious anaemia, with knee pain.
What is homocysteine and what is its function?
Homocysteine is an amino acid. Vitamins B12, B6 and folate break down homocysteine to create other chemicals your body needs. High homocysteine levels may mean you have a vitamin deficiency. Without treatment, elevated homocysteine increases your risks for dementia, heart disease and stroke.
What does homocysteine measure?
A homocysteine test measures the amount of homocysteine in your blood. Homocysteine is a type of amino acid, a chemical your body uses to make proteins. Normally, vitamin B12, vitamin B6, and folic acid break down homocysteine and change it into other substances your body needs.
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