Personal
Professional
Research
Personal Professional Research Sign Up Login Pro Login
Research N-Acetylaspartic acid
Organic Acids Vibrant Wellness

N-Acetylaspartic acid

Optimal Result: 0 - 3.9 mmol/mol.

Elevated N-acetylaspartic acid is due to the genetic disorder Carnavan’s disease, a potentially fatal disease causing spongy degeneration of the brain. 

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/

What does it mean if your N-Acetylaspartic acid result is too high?

Elevated N-acetylaspartic acid is due to the genetic disorder Carnavan’s disease, a potentially fatal disease causing spongy degeneration of the brain. 

An excess of N-Acetylaspartic in the brain is associated with the signs and symptoms of Canavan disease. Studies suggest that if N-Acetylaspartic is not broken down properly, the resulting chemical imbalance interferes with the formation of the myelin sheath as the nervous system develops. A buildup of N-Acetylaspartic also leads to the progressive destruction of existing myelin sheaths. Nerves without this protective covering malfunction, which disrupts normal brain development.

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Frequently asked questions

Healthmatters is a highly-personalized health dashboard.

Instead of searching for your lab results in different places or tracking them down from different providers, Healthmatters houses, organizes, and interprets them all in one central location.

With a Healthmatters account, you can dive into the details of each biomarker and gain insights into the meaning behind your medical test data, anytime, anywhere.

For our professional users, Healthmatters provides intuitive tools that not only streamline analysis but also save valuable time when delving into your client's lab report history.

Healthmatters.io personal account provides in-depth research on 4000+ biomarkers, including information and suggestions for test panels such as, but not limited to:

  • The GI Effects® Comprehensive Stool Profile,
  • GI-MAP,
  • The NutrEval FMV®,
  • The ION Profile,
  • Amino Acids Profile,
  • Dried Urine Test for Comprehensive Hormones (DUTCH),
  • Organic Acids Test,
  • Organix Comprehensive Profile,
  • Toxic Metals,
  • Complete Blood Count (CBC),
  • Metabolic panel,
  • Thyroid panel,
  • Lipid Panel,
  • Urinalysis,
  • And many, many more.

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.

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 special data entry service makes it easy to add your results to your private dashboard. Just attach an image or a file of your lab test results, and our skilled data entry team will do the work for you. It's all done by humans, ensuring that your data is entered accurately and with personal care for each client.

Depending on your account, the data entry service can be included for free or come at an additional cost of $15 per report.

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.

The Unlimited plan is a one-time purchase for $250, and it covers your account for a lifetime with no additional payments.

For the Complete plan, the cost is $15 per month. You have the flexibility to cancel it anytime through your account settings, ensuring no further payments. To avoid charges, remember to cancel at least a day before the renewal date. Once canceled, the subscription remains active until the end of the current billing cycle.

Additionally, you can upgrade to the yearly Advanced plan from within your account. The annual cost is $79, and it comes with a data entry service for five reports.

You can always upgrade to a lifetime version with a prorated price from a monthly or yearly subscription.

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 View

Explore 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 information from your account. We can compile your labs into a CSV file. To download all your labs, you can go to Account Settings, and at the bottom of the page, you will find a link to download your information.

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.

Yes, you can! Simply go to the "Invite Doctor" section, enter your doctor’s email address, and send the invitation. Your doctor will receive an email with secure access to view your results. You can revoke this access at any time. All shared information is securely encrypted and protected for your privacy.
Yes, you can! Go to the Graph view or Spreadsheet view. In the top-right corner, click "Export to Excel," and the file will be downloaded to your device.

Use promo code to save 10% off any plan.


We implement proven measures to keep your data safe.

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.

Navigate to Organic Acids

Popular search

2-Hydroxybutyric acid, 2-Hydroxyhippuric acid, 2-Hydroxyisocaproic acid, 2-Hydroxyisovaleric acid, 2-Hydroxyphenylacetic acid, 2-Oxo-4-methiolbutyric acid, 2-Oxoglutaric acid, 2-Oxoisocaproic acid, 2-Oxoisovaleric, 3-Hydroxy-3-methylglutaric, 3-Hydroxyglutaric acid, 3-Indoleacetic acid (IAA), 3-Methyl-2-oxovaleric acid, 3-Methylglutaconic, 3-Methylglutaric acid, 3-Oxoglutaric acid, 4-Cresol, 4-Hydroxybenzoic acid, 4-Hydroxybutyric acid, 4-Hydroxyhippuric acid, 4-Hydroxyphenylacetic acid, 4-Hydroxyphenyllactic acid, 5-Hydroxyindoleacetic acid (5-HIAA), 5-Hydroxymethyl-furoic acid, Acetoacetic acid, Aconitic acid, Adipic acid, Arabinose, Ascorbic acid (Vitamin C), Carboxycitric acid, Citramalic acid, Citric acid, Creatinine, DHPPA (dihydroxyphenylpropionic acid), Dihydroxyphenylacetic acid (DOPAC), Ethylmalonic acid, Fumaric acid, Furan-2,5-dicarboxylic acid, Furancarbonylglycine, GABA, Glutaric acid (Vitamin B2), Glyceric acid, Glycolic acid, Hippuric acid, Homogentisic acid, Homovanillic acid (HVA), HPHPA (3-(3-hydroxyphenyl)-3-hydroxypropionic acid), HVA/DOPAC, HVA/DOPAC Ratio, Kynurenic acid, Lactic acid, Malic acid, Malonic acid, Mandelic acid, Methylcitric acid (Vitamin H), Methylmalonic acid (Vitamin B12), Methylsuccinic acid, N-Acetylaspartic acid, N-Acetylcysteine acid, Orotic acid, Oxalic acid, Pantothenic acid (Vitamin B5), Phenyllactic acid, Phenylpyruvic acid, Phosphoric acid, Pyridoxic acid (Vitamin B6), Pyroglutamic acid, Pyruvic acid, Quinolinic acid, Quinolinic acid/5-HIAA, Sebacic acid, Suberic acid, Succinic acid, Tartaric acid, Thymine, Tricarballyic acid, Uracil