Question 1

What is Methylmalonic Acidemia?

Accepted Answer

Methylmalonic acidemia is a rare genetic metabolic disorder that prevents the body from properly breaking down certain proteins and fats. It is caused by deficiency in the enzyme methylmalonyl-CoA mutase or problems with vitamin B12 metabolism, leading to toxic accumulation of methylmalonic acid in blood and tissues. The Methylmalonic Acid blood test is the most important test for diagnosis, as it directly measures the elevated levels characteristic of this disorder.

Question 2

What causes methylmalonic acidemia?

Accepted Answer

Methylmalonic acidemia is caused by genetic mutations that affect the enzyme methylmalonyl-CoA mutase or disrupt vitamin B12 metabolism in the body. These inherited defects prevent the normal breakdown of certain amino acids (isoleucine, valine, methionine, threonine) and odd-chain fatty acids, resulting in dangerous accumulation of methylmalonic acid in the blood and tissues. The condition follows an autosomal recessive inheritance pattern, meaning a child must inherit two defective gene copies (one from each parent) to develop the disorder.

Question 3

What is the best test for methylmalonic acidemia?

Accepted Answer

The Methylmalonic Acid blood test is the most important test for methylmalonic acidemia because it directly measures the level of methylmalonic acid that accumulates in the bloodstream due to the metabolic defect. People with this genetic disorder show dramatically elevated methylmalonic acid levels, often 100 to 1000 times higher than normal, making this biomarker the gold standard for confirming diagnosis. This test is typically performed during newborn screening or when symptoms suggest a metabolic disorder, and it helps distinguish methylmalonic acidemia from other similar conditions while also monitoring treatment effectiveness over time.

Question 4

When should I get tested for methylmalonic acidemia?

Accepted Answer

You should get tested if your newborn shows poor feeding, vomiting, lethargy, or failure to thrive in the first days or weeks of life. Testing is also warranted if a child or adult experiences unexplained developmental delays, recurring episodes of metabolic crisis (vomiting, dehydration, lethargy), or has a family history of methylmalonic acidemia. Early diagnosis through blood testing is critical because prompt treatment with a specialized low-protein diet, vitamin B12 supplementation, and medical management can prevent serious complications like brain damage, kidney failure, and life-threatening metabolic crises.

Question 5

What are the symptoms of methylmalonic acidemia?

Accepted Answer

Symptoms of methylmalonic acidemia typically appear in infancy and include poor feeding, vomiting, dehydration, weak muscle tone (hypotonia), lethargy, and failure to gain weight or grow properly. Affected infants may experience metabolic crises with severe vomiting, breathing problems, and loss of consciousness. Over time, children may develop developmental delays, intellectual disability, movement disorders, vision problems, and chronic kidney disease. Some milder forms may not cause symptoms until later childhood or even adulthood, presenting with fatigue, failure to thrive, or recurrent episodes of vomiting and confusion during times of stress or illness.

Question 6

Who is at risk for methylmalonic acidemia?

Accepted Answer

Anyone with two parents who carry a genetic mutation for methylmalonic acidemia is at risk, as this condition follows an autosomal recessive inheritance pattern. The disorder occurs in approximately 1 in 50,000 to 100,000 births worldwide, though rates are higher in certain populations with increased consanguinity (marriages between close relatives). Siblings of affected children have a 25% chance of inheriting the disorder if both parents are carriers. Newborns are routinely screened in many countries, but family history of unexplained infant deaths, developmental disabilities, or known carrier status significantly increases risk and warrants early genetic counseling and testing.

Question 7

What happens if methylmalonic acidemia is left untreated?

Accepted Answer

Untreated methylmalonic acidemia can lead to severe, life-threatening complications including repeated metabolic crises that cause brain swelling, seizures, coma, and potentially death. The toxic accumulation of methylmalonic acid damages multiple organs over time, causing progressive intellectual disability, movement disorders like dystonia and chorea, vision loss from optic nerve damage, and chronic kidney disease that may progress to kidney failure requiring dialysis or transplantation. Children may experience severe growth failure, weakened immune systems leading to frequent infections, and pancreatitis. Even with treatment, some long-term complications can occur, which is why early diagnosis and lifelong medical management are essential for the best possible outcomes.

Question 8

Can methylmalonic acidemia be diagnosed with a blood test?

Accepted Answer

Yes, methylmalonic acidemia can be definitively diagnosed with a blood test that measures methylmalonic acid levels. This blood test is highly specific for the condition and will show dramatically elevated levels (often 100-1000 times normal) in affected individuals. The test is typically included in expanded newborn screening panels in many states and countries, allowing for early detection before symptoms appear. Additional blood tests may include plasma amino acid analysis, complete blood count (which often shows anemia), and vitamin B12 levels to help determine the specific subtype of the disorder and guide treatment decisions.

Question 9

How is methylmalonic acidemia treated?

Accepted Answer

Treatment for methylmalonic acidemia involves a specialized low-protein diet that restricts the amino acids that cannot be properly metabolized, along with high doses of vitamin B12 (particularly hydroxycobalamin) for responsive subtypes. Patients require frequent monitoring, medical formulas with modified amino acid profiles, and L-carnitine supplementation to help remove toxic compounds. During metabolic crises, emergency treatment includes intravenous fluids, glucose, and sometimes dialysis to remove excess methylmalonic acid. Long-term management may include medications to prevent complications, regular blood testing to monitor acid levels and organ function, and in severe cases, liver or combined liver-kidney transplantation to provide the missing enzyme and prevent progressive organ damage.

Question 10

How can I prevent methylmalonic acidemia?

Accepted Answer

Because methylmalonic acidemia is an inherited genetic disorder, it cannot be prevented in children who inherit two defective genes from carrier parents. However, genetic counseling and carrier testing before or during pregnancy can help prospective parents understand their risk, especially if there is a family history of the condition or if they belong to high-risk populations. Prenatal testing through chorionic villus sampling or amniocentesis can diagnose the condition before birth. For families with an affected child, preimplantation genetic diagnosis during in vitro fertilization can select embryos without the genetic mutations. While you cannot prevent the genetic condition itself, early newborn screening allows for immediate treatment that can prevent or minimize the serious health complications associated with untreated methylmalonic acidemia.

Question 11

What can I do at home to manage methylmalonic acidemia?

Accepted Answer

At home, families can support a child with methylmalonic acidemia by strictly following the prescribed low-protein diet, measuring and tracking all food intake according to medical team recommendations, and ensuring consistent use of specialized metabolic formulas. Keep emergency action plans readily available and know the signs of metabolic crisis (excessive vomiting, lethargy, breathing changes) that require immediate medical attention. Maintain regular medication schedules including vitamin B12 injections and L-carnitine supplements, avoid fasting or prolonged periods without food, and prevent infections through good hygiene and staying up-to-date on vaccinations. During illnesses, follow your metabolic team's sick-day protocol which typically involves increased fluids, modified diet, and close monitoring. Regular communication with your metabolic specialist, dietitian, and support groups can help families navigate daily management and improve quality of life.

Question 12

How’s this work?

Accepted Answer

Getting your blood test with us is easy, private & backed by the power of science.Long story short:
            
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Question 13

How do I know which test to get?

Accepted Answer

In the test options, find the test you want.
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Question 14

When will my lab results be available?

Accepted Answer

Most test results will be available within 1–3 business days. Once they're ready, we'll send an email and text message to let you know.
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Question 15

Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?

Accepted Answer

Absolutely! We totally understand that errors can happen. No worries, we're here to help you.
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Question 16

Do you accept health insurance?

Accepted Answer

Only HSA & FSA is accepted.
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Question 17

Can I cancel my order?

Accepted Answer

Yes.
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Question 18

How can I find a lab location near me?

Accepted Answer

During the ordering process, you’ll be able to select a specific lab near you, with no strings attached!
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Methylmalonic Acidemia Blood Test

What is Methylmalonic Acidemia?

What causes methylmalonic acidemia?

What is the best test for methylmalonic acidemia?

When should I get tested for methylmalonic acidemia?

References

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