Question 1

What is Enzyme Deficiency?

Accepted Answer

Enzyme deficiency is a condition where the body produces insufficient amounts of specific enzymes needed for normal metabolic processes and drug metabolism. It is caused by genetic variations or mutations that reduce the activity of enzymes like CYP2D6, which metabolizes many common medications. The Dextro/Levo Methorphan LC/MS/MS Urine test is the most important test for diagnosing enzyme deficiencies affecting drug metabolism.

Question 2

What causes enzyme deficiency?

Accepted Answer

Enzyme deficiency is caused by genetic variations or mutations that reduce the production or activity of specific enzymes in the body. The most common cause is inherited genetic polymorphisms, particularly in the CYP2D6 gene, which affects how the liver processes medications. These genetic differences can result in poor metabolizers who break down drugs too slowly, intermediate metabolizers with reduced enzyme activity, or ultra-rapid metabolizers who process medications too quickly, all of which can impact drug effectiveness and safety.

Question 3

What is the best test for enzyme deficiency?

Accepted Answer

The Dextro/Levo Methorphan LC/MS/MS Urine test is the most important test for enzyme deficiency because it directly measures how well the CYP2D6 enzyme metabolizes medications. This test analyzes the ratio of dextromethorphan to its metabolites in urine, providing clear evidence of enzyme function. Low levels of metabolites indicate poor enzyme activity, which means medications processed by CYP2D6 may accumulate to dangerous levels in your body. This test is essential for anyone experiencing unusual medication side effects or who needs personalized dosing for drugs like antidepressants, pain medications, or heart medications that rely on this enzyme pathway.

Question 4

When should I get tested for enzyme deficiency?

Accepted Answer

You should get tested if you experience severe or unusual side effects from medications, especially antidepressants, codeine, or other pain relievers. Testing is also important if medications do not work as expected at standard doses, if you have a family history of adverse drug reactions, or if you are starting treatment with multiple medications that are metabolized by liver enzymes. Anyone who has had unexplained medication toxicity or requires frequent dose adjustments should consider enzyme function testing to ensure safe and effective medication management.

Question 5

What are the symptoms of enzyme deficiency?

Accepted Answer

Symptoms of enzyme deficiency typically appear as medication-related problems rather than direct health symptoms. You might experience excessive drowsiness, severe side effects from normal medication doses, or conversely, no therapeutic benefit from standard doses. Some people notice nausea, dizziness, confusion, or unexpected mood changes when taking medications. In severe cases, enzyme deficiency can lead to drug toxicity with symptoms like irregular heartbeat, breathing problems, or dangerous interactions between multiple medications.

Question 6

Who is at risk for enzyme deficiency?

Accepted Answer

Enzyme deficiency risk is primarily determined by genetics and ethnicity. Approximately 7-10% of Caucasians are poor metabolizers of CYP2D6, while the condition is less common in Asian and African populations. Anyone with a family history of adverse drug reactions, people taking multiple medications simultaneously, and individuals who have experienced unexplained medication side effects are at higher risk. Certain ethnic groups have higher rates of specific enzyme variants, making genetic background an important risk factor.

Question 7

What happens if enzyme deficiency is left untreated?

Accepted Answer

If enzyme deficiency goes undiagnosed, you face ongoing risks of medication toxicity and treatment failure. Standard medication doses can accumulate to dangerous levels in poor metabolizers, causing severe side effects, organ damage, or life-threatening reactions. Conversely, ultra-rapid metabolizers may never achieve therapeutic drug levels, leaving conditions untreated. Without knowing your enzyme status, doctors cannot properly adjust medications, leading to a cycle of ineffective treatments, unnecessary medication changes, and potentially serious adverse drug events that could be prevented with proper testing.

Question 8

Can enzyme deficiency be diagnosed with a blood test?

Accepted Answer

Enzyme deficiency is best diagnosed through specialized urine tests rather than standard blood tests. The Dextro/Levo Methorphan LC/MS/MS Urine test measures how your body metabolizes a test substance, providing functional evidence of enzyme activity. While genetic blood tests can identify mutations in enzyme genes, functional urine tests show how enzymes actually perform in your body, which is more relevant for medication management. These specialized tests are not part of routine blood work and must be specifically ordered to assess drug-metabolizing enzyme function.

Question 9

How is enzyme deficiency treated?

Accepted Answer

Enzyme deficiency is managed primarily through medication adjustments rather than treating the deficiency itself. Once identified, your healthcare provider will personalize medication choices and doses based on your enzyme activity level. Poor metabolizers typically need lower doses or alternative medications that do not rely on the deficient enzyme, while ultra-rapid metabolizers may require higher doses or more frequent dosing. Some patients benefit from avoiding certain medications entirely and switching to drugs metabolized through different pathways. Pharmacogenetic testing allows for precision medicine approaches that maximize effectiveness while minimizing side effects.

Question 10

How can I prevent enzyme deficiency?

Accepted Answer

Enzyme deficiency cannot be prevented because it is primarily genetic and inherited from your parents. However, you can prevent complications by getting tested before starting medications known to be metabolized by CYP2D6 and other variable enzymes. Inform all healthcare providers about your enzyme status once identified, maintain a current medication list, and avoid starting new medications without considering enzyme interactions. Proactive testing allows you to work with your doctor to select medications that match your metabolic profile, preventing adverse reactions before they occur.

Question 11

What can I do at home for enzyme deficiency?

Accepted Answer

At home, focus on careful medication management and monitoring. Keep a detailed diary of all medications, doses, and any side effects you experience. Avoid grapefruit juice and certain herbal supplements that can further inhibit enzyme function. Never adjust medication doses without medical guidance, and be cautious about over-the-counter drugs that may interact with your enzyme deficiency. Share your test results with all healthcare providers, including dentists and specialists. Consider wearing a medical alert bracelet indicating your enzyme status, especially if you are a poor metabolizer, to ensure proper medication selection in emergency situations.

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:
            
                In the test options, use the filters or search box to narrow your choices and find the test you want.
                If you need a hand navigating through options, text our super friendly support team at 754-799-7833, and we'll provide tailored suggestions to help you find the ideal test.
                Once your order is placed, we’ll create your doctor’s lab order remotely, without any need for you to make a trip to a doctor in person or to talk to the doctor. Expect to receive your doctor’s lab order right in your inbox. It will also be in your patient portal if you need to find it later. We’ll also include instructions regarding fasting and other requirements for your test. Your patient portal will be auto-created hassle-free during checkout.
                If this is your first time ordering, you'll be prompted to create a password for instant login access to your patient portal. It's a quick way to conveniently access your orders and results whenever you want.
                When you’re ready, visit one of our 4,000 locations. Just bring your ID – no printing or faxing of your lab order is needed, as your order and details will already be in the lab system.
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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.
            If you’re not sure which test to get, we can lend a hand in finding the right option.
            Just text or call us at 754-799-7833, email us at support@privatemdlabs.com, and we'll gladly help you. We've got your back and reply quickly.

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.
            After your blood draw, just hang tight and don't worry – we'll keep you updated and in the loop!
            If you have any further questions, please text us at 754-799-7833 or email support@privatemdlabs.com, and we'll gladly help you.

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.
            Just reach out to us via text at 754-799-7833 or shoot us an email at
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            Our awesome team will jump right in and make sure everything is sorted out and accurate for you.
            There are no changes necessary if your address is wrong on the requisition though. We don’t mail anything out.
            Our lab requires an address to be listed to generate an order.

Question 16

Do you accept health insurance?

Accepted Answer

Only HSA & FSA is accepted.
            Our services are strictly self-pay and cannot be submitted to your health insurance provider except for Health Savings Accounts or Flexible Savings Accounts.
            This policy applies to all insurance companies, including federal health insurance programs like Medicare.
            If you have any questions, please text us at 754-799-7833 or email support@privatemdlabs.com.

Question 17

Can I cancel my order?

Accepted Answer

Yes.
            We get it – sometimes your needs change.
            As long as your samples haven’t been collected yet, we’re happy to help you cancel your order.
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            You can read more about our cancellation policy here.

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!
            You can switch it up later easily and visit any of our authorized locations as long as it’s the same lab company you selected your test for (Quest Diagnostics or Labcorp).
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            If you have any questions, please text us at 754-799-7833 or email support@privatemdlabs.com and we'll gladly help you.

Enzyme Deficiency Blood Test

What is Enzyme Deficiency?

What causes enzyme deficiency?

What is the best test for enzyme deficiency?

When should I get tested for enzyme deficiency?

References

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