Optimal Result:
0 - 38 mmol/mol creatinine.
N-acetylaspartic acid, primarily found in the brain, is a crucial marker for neuronal health and function. Elevated urinary levels of NAA may suggest a metabolic disturbance, with the most notable condition being Canavan disease, a rare genetic disorder characterized by a deficiency of the enzyme aspartoacylase, leading to an accumulation of NAA in the brain and its subsequent spillage into the urine. Monitoring NAA levels in an organic acids test can help in the early detection, diagnosis, and management of such metabolic abnormalities, providing clinicians with crucial information about an individual's metabolic profile.
What is Carnavan’s disease?
Canavan disease is a rare inherited disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies disrupt the growth or maintenance of the myelin sheath, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses.
Mutations in the ASPA gene cause Canavan disease. The ASPA gene provides instructions for making an enzyme called aspartoacylase. This enzyme normally breaks down N-acetyl-L-aspartic acid, which is predominantly found in neurons in the brain. The function of N-Acetylaspartic is unclear. Researchers had suspected that it played a role in the production of the myelin sheath, but recent studies suggest that N-Acetylaspartic does not have this function. The enzyme may instead be involved in the transport of water molecules out of neurons.
Mutations in the ASPA gene reduce the function of aspartoacylase, which prevents the normal breakdown of NAA. The mutations that cause the neonatal/infantile form of Canavan disease severely impair the enzyme's activity, allowing N-Acetylaspartic to build up to high levels in the brain. The mutations that cause the mild/juvenile form of the disorder have milder effects on the enzyme's activity, leading to less accumulation of N-Acetylaspartic.
Synonyms of Canavan Disease:
The symptoms of the disease can vary greatly.
Some of the most common symptoms are:
- larger-than-normal head circumference
- poor head and neck control
- reduced visual responsiveness and tracking
- unusual muscle tone, leading to stiffness or floppiness
- unusual posture, with legs often kept straight and arms flexed
- difficulty eating, with food sometimes flowing up into the nose
- difficulty sleeping
- seizures
The symptoms and progression of Canavan disease varies from case to case. The disorder usually becomes apparent between 3 and 6 months of age and the initial symptoms usually include extremely poor head control, an abnormally large head (macrocepahly), and severely diminished muscle tone (hypotonia) resulting in “floppiness.” Affected infants may be generally unresponsive (apathetic), lethargic or irritable. Some infants may experience difficulty swallowing (dysphagia), which contributes to feeding difficulties.
Affected infants also show delays in reaching developmental milestones (e.g., sitting or standing unassisted) and most never walk independently. The progressive loss of abilities requiring the coordination of mental and muscular activity (psychomotor regression) and mental retardation also become apparent during infancy. Most affected infants do learn to smile, laugh, raise their heads and interact socially.
Additional symptoms that affect children with Canavan disease include seizures, sleep disorders, feeding difficulties, nasal regurgitation, backflow of acid from the stomach to the esophagus (reflux) sometimes associated with vomiting, and deterioration of the nerves of the eyes (optic nerves) that transmit impulses from the nerve-rich membrane lining the eyes (retina) to the brain (optic atrophy). Optic atrophy may cause reduced visual responsiveness. In most case, hearing is unaffected, but hearing loss can occur.
As affected infants age, hypotonia may eventually develop into spasticity, a condition characterized by involuntary muscle spasms that result in slow, stiff movements of the legs. Affected individuals may eventually exhibit uncontrolled rigid extensions and rotations of the arms, legs, fingers, and toes (decerebrate rigidity) or paralysis. Canavan disease eventually progresses to cause life-threatening complications; however, the severity and progression of the disease varies. Some individuals develop life-threatening complications in infancy; others live beyond their teen-age years.
In the last few years, a mild form of Canavan disease has been recognized, with characteristic mutations of the ASPA gene and only slightly increased NAA in the urine. These children may be only slightly delayed, can learn and go to school. The head may be somewhat enlarged, but the typical white matter changes associated with Canavan may be absent. The prognosis is certainly much better.
Potential treatment options:
The treatment of Canavan disease is directed toward the specific symptoms that are apparent in each individual. Supportive care may alleviate some discomfort. Physical therapy and early intervention may help to improve posture and communication skills, respectively. If swallowing difficulties occur, feeding tubes may be useful to ensure proper nutrition and hydration. Seizures may be treated with anti-seizure (anti-convulsant) medications.
Genetic counseling and carrier testing will benefit families in which this disease occurs.
References:
https://link.springer.com/chapter/10.1007%2F978-3-642-55878-8_14
https://medlineplus.gov/genetics/condition/canavan-disease/
https://rarediseases.org/rare-diseases/canavan-disease/
N-acetylaspartic acid (NAA) is a molecule found predominantly in the brain. It is often measured using magnetic resonance spectroscopy (MRS), a non-invasive method that can assess the chemical composition of brain tissue. Elevated levels of NAA can have various implications, but it's also crucial to understand that changes in NAA levels can be seen in different pathological conditions. Here's what elevated levels might indicate:
→ Normal Neuronal Activity: NAA is often considered a marker of neuronal health and viability. Elevated levels might simply represent areas of the brain with high neuronal density or activity.
→ Canavan Disease: This is a rare inherited metabolic disorder where there's an accumulation of NAA in the brain due to a deficiency of the enzyme aspartoacylase. Elevated levels of NAA in the brain, along with other clinical findings, can be indicative of Canavan disease.
→ Recovery from Injury: In some conditions, such as following a brain injury, an initial decrease in NAA might be observed due to neuronal damage. As the brain recovers, there might be a rebound increase in NAA levels.
→ Other Pathological Conditions: Changes in NAA levels, whether increased or decreased, can be seen in various other conditions, including brain tumors, multiple sclerosis, and neurodegenerative diseases. The significance of the change often depends on the context and the specific condition being considered.
It's essential to interpret NAA levels in conjunction with clinical symptoms, other imaging findings, and the specific context in which they are measured. Elevated levels, on their own, don't provide a definitive diagnosis but can offer valuable insights when combined with other clinical information.
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Import Lab Results from Any Source
Easily upload lab results from any provider, whether it's a hospital, independent lab, or home testing service. We support PDFs, scanned documents, and JPEGs from patient portals. No need to log in to multiple platforms — everything is centralized in one secure space.
Easily upload lab results from any provider — we support PDFs, scans, and images. Keep all your reports organized in one secure place.
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Every lab result is automatically organized on a chronological timeline, giving you a complete picture of your health journey. Whether you're tracking a condition, managing treatments, or staying proactive, the timeline helps you and your doctor understand how things progress over time.
Every lab result is automatically organized on a chronological timeline, giving you a complete picture of your health journey.
Understand What Your Results Mean
Whether it's a blood test, GI panel, urinalysis, or something else, lab reports measure numerous biomarkers that reveal what's happening inside your body. Our extensive database covers over 10,000 biomarkers, providing clear, simple explanations of what each result means and how you can take action—no matter your membership level. Say goodbye to confusion and get the insights you need to better understand your health.
Our database covers over 10,000 biomarkers with clear, simple explanations—so you can finally understand your results and what to do next.
Enter Your Lab Reports Yourself — Always Free
Enter Your Lab Reports — Always Free
If you'd like to handle inputting your health data into your account, you can do so with our easy-to-use data entry forms. Our user-friendly form is designed to guide you through the quick and easy submission process, making it simple to keep track of your health metrics. This is available to both Complete plan and Unlimited plan members.
Our user-friendly form guides you through a quick, simple submission process, making it easy to enter your health metrics.
Add your results anytime with our easy entry form. It's quick, guided, and helps you stay organized — free for all members.
Visualize Your Results
View your lab data through easy-to-read graphs and tables. Quickly spot patterns, track changes, and compare results across different dates — all without digging through multiple reports. You can also select and compare graphs of specific biomarkers side-by-side to better understand how they relate and change over time.
See your lab reports in clear graphs and tables. Spot patterns, track changes, and compare results over time — all in one place.
Export Your Complete Lab History in a Single File
Export Your Complete Lab History
After collecting lab results from different providers, you can download your entire history combined into a single file. Choose from PDF, Excel, or CSV formats to easily review, share, or get a second opinion—no more juggling multiple reports.
After collecting lab results from different providers, you can download your entire history combined into a single file.
Comprehensive Data Entry Service for Your Reports
Data Entry Service for Your Reports
Our inclusive service handles the data entry for your lab reports. Just submit your information and we'll take care of the rest. Complete plan members receive one report entered for free, then $15 per report after that. Unlimited plan members receive ten report entries for free, then $15 per report after that.
Our inclusive service handles the data entry for your lab reports. Just submit your information and we'll take care of the rest.
Securely Share With Anyone You Trust
Whether you're working with a doctor, nutritionist, caregiver, or wellness coach, you can securely share your complete lab history by sending an invite link to anyone you trust. You have full control over who sees your information and for how long, ensuring your privacy and peace of mind at every step.
Share your full lab history with your doctor, nutritionist, or coach using a secure invite link.
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I have been using Healthmatters.io since 2021. I travel all over the world and use different doctors and health facilities. This site has allowed me to consolidate all my various test results over 14 years in one place. And every doctor that I show this to has been impressed. Because with any health professional I talk to, I can pull up historical results in seconds. It is invaluable. Even going back to the same doctor, they usually do not have the historical results from their facility in a graph format. That has been very helpful.
Anthony
Unlimited Plan Member since 2021
What fantastic service and great, easy-to-follow layouts! I love your website; it makes it so helpful to see patterns in my health data. It's truly a pleasure to use. I only wish the NHS was as organized and quick as Healthmatters.io. You've set a new standard for health tracking!
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As a PRO member and medical practitioner, Healthmatters.io has been an invaluable tool for tracking my clients' data. The layout is intuitive, making it easy to monitor trends and spot patterns over time. The ability to customize reports and charts helps me present information clearly to my clients, improving communication and outcomes. It's streamlined my workflow, saving me time and providing insights at a glance. Highly recommended for any practitioner looking for a comprehensive and user-friendly solution to track patient labs!
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Healthmatters Pro Member since 2024
Healthmatters is a personal health dashboard that helps you organize and understand your lab results. It collects and displays your medical test data from any lab in one secure, easy-to-use platform.
With a Healthmatters account, you can:
Professionals can also analyze client data more efficiently and save time managing lab reports.
Healthmatters.io personal account provides in-depth research on 4000+ biomarkers, including information and suggestions for test panels such as, but not limited to:
You can combine all test reports inside your Healthmatters account and keep them in one place. It gives you an excellent overview of all your health data. Once you retest, you can add new results and compare them.
If you are still determining whether Healthmatters support your lab results, the rule is that if you can test it, you can upload it to Healthmatters.
While we work with many popular labs, we welcome reports from lots of other places too.
It's as simple as this: if you can get a test done, you can upload it to Healthmatters and we can interpret results from any lab out there. If laboratories can analyze it, we can interpret it.
If you're on the hunt for a specific biomarker, contact us and we'll add it to our database. Anything from blood, urine, saliva, or stool can be uploaded, understood, and tracked with your Healthmatters account.
The Complete Plan ($15/month) is perfect for individuals who want ongoing access to their health data. It includes unlimited lab imports, visual tracking, custom ranges, result explanations, full account exports, and secure sharing — all with a simple monthly subscription. You can cancel anytime and restart your plan whenever you're ready — your data will still be there waiting for you. You can also upgrade to the Unlimited Plan at any time, with the cost prorated based on what you've already paid.
The Unlimited Plan ($250 one-time) is also designed for individuals but offers lifetime access with no ongoing subscription. You'll get all the same features as the Complete Plan, plus a larger initial data entry allowance (10 reports), making it a great choice if you prefer a one-time payment and long-term use without monthly fees.
In short:
There are two ways to add your test reports to your Healthmatters account. One option is to input the data using the data entry forms. The other method is to utilize our "Data entry service."
Our data entry forms offer an easy, fast, and free way for you to input the reports yourself. Self-entry allows you to add an unlimited number of reports at no cost. We make the self-entry process user-friendly, providing dozens of templates that pre-populate the most popular laboratory panels and offering instant feedback on entered values.
For those who prefer assistance, we offer a "Data entry service" to help you input your data. Simply attach an image or file of your lab test results, and a qualified team member from our data entry team will add the results for you.
We support various file types, including PDFs, JPGs, or Excel. This service is particularly useful if you have many reports to upload or if you're too busy to handle the data entry yourself.
Our Data Entry Service is for when you don't want to manually type in your lab results yourself. You simply upload your report (PDF, image, or screenshot), and our trained team enters the information into your Healthmatters account for you — accurately and neatly organized, ready to view in graphs, tables, and timelines.
The $15 per report covers the time and care it takes for a real person to review your file, make sure each result is entered correctly, and double-check for accuracy. This ensures your health data is precise and easy to work with — without you having to spend the time doing it yourself.
Prefer to do it yourself? You can always use our free self-entry tool to add results manually — it just takes a bit more time and attention.
For users on the Complete monthly plan, the first report is entered free of charge, and each additional report incurs a fee of $15.
Unlimited account holders enjoy the entry of ten reports without charge. Subsequent reports are subject to a $15 fee per report.
Additionally, users on the Complete plan can upgrade to a yearly subscription from the account settings. The annual subscription includes a data entry service for five reports.
All professional accounts allow you to import and onboard an unlimited number of clients and their lab results. The distinction between professional plans lies solely in the data entry service.
The Pro Monthly Plus plan is priced at $75 per month and includes a data entry service for five reports each month. Additional reports can be self-entered at no extra cost or, if preferred, you can use our data entry service for an additional fee of $15 per report.
The Pro Monthly plan is priced at $45 per month and does not include a data entry service. Self-entry is free for an unlimited number of reports, and you can opt for the data entry service at a fee of $15 per report.
You also have the option to upgrade to higher monthly or to annual plans, which come with substantial discounts. All upgrades can be done directly from your account.
Simply log in and navigate to your account settings to cancel your subscription. Scroll down to locate the 'Cancel' button at the bottom of the page. Ensure you cancel at least one day before the renewal date to prevent any charges. Once cancellation is requested, the subscription remains active until the conclusion of the current billing cycle.
Our goal has been to make your Healthmatters account as intuitive as possible.
We've crafted multiple ways for you to navigate your data, whether you're glancing at a single report or delving into your historical test reports.
1. Graph View:Dive into a visual journey with our biomarker graphs, showcasing over 40 data points. Combining years of results unveils trends, empowering you to make informed decisions. Our visualization tools make it a breeze to compare and understand changes over time, even if your results are from different labs. A search function and filters simplify the exploration of extensive data, allowing you to focus on what needs attention.
2. All Tests ViewExplore neatly organized reports on a timeline, highlighting crucial details like dates, critical results, and lab/panel names. Each report opens up to reveal in-depth descriptions and additional recommendations for each biomarker. The history of previous results is just a click away, and you can download a comprehensive report for deeper insights. Color-coded and user-friendly, it's designed for easy reading, understanding, and navigation.
3. Table View:For a holistic view of all biomarkers side by side, our table view is your go-to. Results are neatly displayed in a categorized and dated table, ideal for those with an extensive test history. Utilize sorting, filters, and color-coding to enhance your analysis and gain extra insights.
Yes, you can download your information anytime. We offer two easy ways to export your lab data:
This makes it simple to save, back up, or share your health data whenever you need.
Yes, you can print your report. To do so, navigate to "All tests" and open the report you wish to print. You'll find a print button in the right corner of the report. Click on it, and your browser's print window will open. If you prefer to print in a bigger typeface, adjust the scale using the print window settings.
Yes, you can! We highly recommend activating Two-Factor Authentication (2FA) for your account. To do so, please navigate to the "Profile and Security" section of your account, where you will find instructions for activating 2FA.
Yes, you can. When entering values for the biomarker, you will see an "Edit Range" button. Click this button, and you'll have the option to enter a custom range.
A personal account is all about keeping your own lab test results in check. It's just for you and your personal use.
The professional account is designed for health professionals who wish to track and organize their clients' laboratory results.
To learn more about Healthmatters Pro, please refer to the professional page.
At HealthMatters, we're committed to maintaining the security and confidentiality of your personal information. We've put industry-leading security standards in place to help protect against the loss, misuse, or alteration of the information under our control. We use procedural, physical, and electronic security methods designed to prevent unauthorized people from getting access to this information. Our internal code of conduct adds additional privacy protection. All data is backed up multiple times a day and encrypted using SSL certificates. See our Privacy Policy for more details.
