Carbaglu (Carglumic Acid)
Treatment for hyperammonaemia due to NAGS deficiency and organic acidaemias
Quick Facts About Carbaglu
Key Takeaways About Carbaglu
- Lifelong therapy for NAGS deficiency: Patients with N-acetylglutamate synthase deficiency require Carbaglu for life, as it replaces the missing natural activator of the urea cycle
- Also used in organic acidaemia crises: Carbaglu is indicated during hyperammonaemic episodes in isovaleric acidaemia, methylmalonic acidaemia, and propionic acidaemia
- Dissolve before taking: Tablets must be dissolved in at least 5–10 ml of water and taken immediately before meals; they should never be swallowed whole
- Dose is weight-based: The typical starting dose is 100 mg/kg/day, with long-term maintenance between 10–100 mg/kg/day, individually adjusted to maintain normal ammonia levels
- Specialist supervision required: Treatment must be started and monitored by a physician experienced in metabolic diseases, with regular blood tests to check ammonia, liver, and kidney function
What Is Carbaglu and What Is It Used For?
Carbaglu (carglumic acid) is an orphan medicine that helps the body eliminate dangerously high levels of ammonia from the blood. It is the only approved treatment for hyperammonaemia caused by N-acetylglutamate synthase (NAGS) deficiency and is also used during hyperammonaemic crises in certain organic acidaemias.
Ammonia is a natural waste product generated when the body breaks down proteins. Under normal circumstances, the liver converts ammonia into urea through a metabolic pathway known as the urea cycle, and the urea is then safely excreted by the kidneys. When this cycle does not function properly, ammonia accumulates in the blood – a condition called hyperammonaemia. Because ammonia is highly toxic to the central nervous system, even moderately elevated levels can cause serious neurological damage, and severely elevated levels can lead to reduced consciousness, coma, and death if left untreated.
The urea cycle is a series of six enzymatic reactions that take place primarily in the liver. The very first step requires an enzyme called carbamoyl phosphate synthetase 1 (CPS 1), which converts ammonia and bicarbonate into carbamoyl phosphate. However, CPS 1 cannot function without being activated by a small molecule called N-acetylglutamate (NAG). NAG is produced in the liver by the enzyme N-acetylglutamate synthase (NAGS). In patients with NAGS deficiency – a very rare autosomal recessive inherited disorder – the body cannot produce sufficient NAG, rendering CPS 1 inactive and the entire urea cycle non-functional.
Carglumic acid, the active ingredient in Carbaglu, is a synthetic structural analogue of NAG. When taken orally, carglumic acid reaches the liver and directly activates CPS 1, effectively replacing the missing or deficient NAG. This restores the function of the urea cycle and allows the body to convert ammonia to urea once again. Because NAGS deficiency is a permanent genetic condition, patients require lifelong treatment with Carbaglu to maintain normal ammonia levels and prevent the severe neurological consequences of hyperammonaemia.
Carbaglu is also indicated for the treatment of hyperammonaemia occurring during acute metabolic crises in patients with certain organic acidaemias. These are a group of inherited metabolic disorders in which the body cannot properly break down specific amino acids or organic acids. The three conditions for which Carbaglu is approved in this setting are:
- Isovaleric acidaemia (IVA): A disorder of leucine metabolism caused by deficiency of isovaleryl-CoA dehydrogenase
- Methylmalonic acidaemia (MMA): A disorder of propionate metabolism caused by deficiency of methylmalonyl-CoA mutase
- Propionic acidaemia (PA): A disorder of propionate metabolism caused by deficiency of propionyl-CoA carboxylase
In these organic acidaemias, the accumulation of toxic metabolites can secondarily inhibit the urea cycle by reducing intramitochondrial NAG levels. By providing an exogenous source of CPS 1 activation, Carbaglu can help restore ammonia clearance during acute metabolic crises. However, in organic acidaemias, Carbaglu is used as adjunctive therapy during hyperammonaemic episodes rather than as a continuous lifelong treatment, which distinguishes its use from NAGS deficiency management.
Mechanism of Action
Carglumic acid acts as a direct activator of hepatic carbamoyl phosphate synthetase 1. The molecule has a similar three-dimensional structure to N-acetylglutamate, allowing it to bind to the allosteric regulatory site on CPS 1. This binding induces a conformational change in the enzyme that renders it catalytically active. Once activated, CPS 1 catalyses the ATP-dependent condensation of ammonia and bicarbonate to form carbamoyl phosphate – the first committed step of the urea cycle.
Unlike endogenous NAG, which is rapidly degraded by the enzyme aminoacylase, carglumic acid is more resistant to enzymatic breakdown. This gives it a longer duration of action and makes oral administration clinically feasible. Following oral administration, carglumic acid is absorbed from the gastrointestinal tract, reaches the liver, and enters the mitochondria of hepatocytes where CPS 1 resides. Studies have demonstrated that plasma ammonia levels begin to decrease within hours of the first dose, with normalisation typically achieved within 24 to 48 hours in responsive patients.
Carbaglu has been granted orphan medicine designation by both the European Medicines Agency (EMA) and the U.S. Food and Drug Administration (FDA), reflecting the extreme rarity of the conditions it treats. NAGS deficiency is estimated to affect fewer than 1 in 2,000,000 live births worldwide. Orphan designation provides regulatory and commercial incentives to encourage the development of treatments for rare diseases.
What Should You Know Before Taking Carbaglu?
Carbaglu must be initiated under the supervision of a physician experienced in metabolic diseases. It should not be taken if you are allergic to carglumic acid or any of its excipients. Breastfeeding is not recommended during treatment. Your doctor will regularly monitor your liver, kidney, heart, and blood parameters during therapy.
Before starting treatment with Carbaglu, it is essential that your healthcare team performs a thorough evaluation. Because NAGS deficiency and the organic acidaemias are complex metabolic conditions that can present with life-threatening symptoms, treatment should always be managed by specialists with expertise in inherited metabolic diseases. This section covers the important considerations, contraindications, and precautions that you and your doctor should be aware of before and during treatment.
Contraindications
You must not take Carbaglu if:
- You are allergic (hypersensitive) to carglumic acid or any of the other ingredients in the tablet (see the full list of excipients in the composition section below)
- You are breastfeeding – carglumic acid has been shown to pass into breast milk in animal studies with potential harmful effects on the nursing offspring
If you believe you may be allergic to any ingredient in Carbaglu, inform your doctor immediately. An alternative approach to managing your hyperammonaemia may need to be considered.
Warnings and Precautions
Talk to your doctor or pharmacist before taking Carbaglu if any of the following apply to you:
- New to treatment: Carbaglu therapy should be initiated under the direct supervision of a physician experienced in treating metabolic diseases. Your doctor will carefully evaluate your response to carglumic acid before establishing a long-term treatment plan
- Dose adjustment: The dose must be individually tailored for each patient to maintain normal plasma ammonia levels. Your doctor will adjust the dose based on regular monitoring of your blood ammonia concentrations and overall clinical response
- Dietary management: Your doctor may prescribe arginine supplementation or recommend protein restriction as part of your overall treatment plan. These dietary measures work alongside Carbaglu to help control ammonia levels
- Regular monitoring required: To ensure that the treatment is working properly and to detect any potential adverse effects early, your doctor will schedule regular check-ups. These typically include assessments of liver function, kidney function, cardiac health, and blood parameters including plasma ammonia and amino acid levels
- Kidney impairment: If you have reduced kidney function, inform your doctor. Your daily dose may need to be reduced, as impaired renal clearance could affect the elimination of carglumic acid from the body
It is critically important that you do not stop taking Carbaglu without first consulting your doctor. In patients with NAGS deficiency, abrupt discontinuation can lead to a rapid and dangerous rise in blood ammonia levels. Any changes to your dosage or treatment schedule should be made only under medical supervision.
Pregnancy and Breastfeeding
If you are pregnant, think you may be pregnant, or are planning to become pregnant, consult your doctor or pharmacist before taking Carbaglu. The effects of carglumic acid on pregnancy and foetal development have not been fully characterised in humans. Your healthcare provider will carefully weigh the potential benefits of continuing treatment against any possible risks to you and your developing baby.
Breastfeeding is not recommended during Carbaglu treatment. Studies in lactating animals have demonstrated that carglumic acid is excreted in breast milk, and there was evidence of potential toxic effects in the nursing offspring. Because the safety of exposure through breast milk has not been established in humans, women taking Carbaglu should not breastfeed. Discuss suitable alternatives for infant feeding with your doctor.
Driving and Operating Machinery
The effects of Carbaglu on the ability to drive or operate machinery have not been specifically studied. However, if you experience any symptoms such as dizziness, drowsiness, or changes in your level of alertness – which can occur with hyperammonaemia or as part of your underlying metabolic condition – you should not drive or operate heavy machinery until these symptoms have resolved. Discuss any concerns with your doctor.
Other Medicines and Carbaglu
Tell your doctor or pharmacist if you are taking, have recently taken, or might take any other medicines, including non-prescription medicines, herbal products, and dietary supplements. While no formal drug interaction studies have been conducted with Carbaglu in clinical settings, it is important for your healthcare team to have a complete picture of all substances you are taking to ensure safe and effective treatment.
Carbaglu should be taken orally before meals or feedings. The dispersible tablets must be dissolved in at least 5 to 10 ml of water and the resulting suspension should be taken immediately. The suspension has a slightly acidic taste. Do not dissolve the tablets in any other liquid, and do not swallow the tablets whole.
How Does Carbaglu Interact with Other Drugs?
No formal drug interaction studies have been conducted with Carbaglu. However, patients should inform their doctor about all medicines they are taking. Because Carbaglu is used alongside dietary management and sometimes arginine supplementation, coordination of the overall treatment plan by a metabolic specialist is essential.
The clinical experience with Carbaglu interactions is limited, primarily because of the extreme rarity of the conditions it treats. The number of patients studied in clinical trials has been small, which means that uncommon interactions may not yet have been identified. Despite this limitation, some general pharmacological considerations are relevant when using Carbaglu alongside other treatments.
Carglumic acid is a relatively simple organic molecule that is not extensively metabolised by the cytochrome P450 enzyme system. Approximately 9% of an oral dose is absorbed and reaches the systemic circulation, with the majority of the absorbed drug being eliminated through the kidneys. A significant portion of the oral dose (up to 60%) is excreted unchanged in the faeces, suggesting incomplete absorption from the gastrointestinal tract. These pharmacokinetic characteristics suggest that clinically significant cytochrome P450-mediated drug interactions are unlikely, although this has not been formally confirmed.
Considerations for Concurrent Treatments
| Drug / Class | Consideration | Recommendation |
|---|---|---|
| Arginine supplements | Often co-prescribed in NAGS deficiency to provide substrate for the urea cycle | Use as directed by your metabolic specialist; complementary to Carbaglu |
| Sodium benzoate / sodium phenylbutyrate | Alternative ammonia-scavenging agents used in some urea cycle disorders | May be used concurrently in some patients; dose adjustments should be guided by ammonia monitoring |
| Valproic acid | Known to inhibit the urea cycle and can cause or worsen hyperammonaemia independently | Use with extreme caution; may counteract the benefits of Carbaglu. Discuss alternatives with your doctor |
| Corticosteroids | May increase protein catabolism and raise endogenous ammonia production | Monitor ammonia levels closely if corticosteroids are required; dose adjustment of Carbaglu may be needed |
| Nephrotoxic drugs | Impaired renal function may reduce carglumic acid elimination | Monitor kidney function and adjust Carbaglu dose if renal impairment develops |
Because the management of NAGS deficiency and organic acidaemias typically involves a comprehensive treatment plan that may include dietary protein restriction, amino acid supplementation, carnitine supplementation, and emergency protocols, it is essential that all medications and supplements are coordinated by a single metabolic specialist team. This ensures that potential interactions or incompatibilities are identified and managed proactively.
Always carry a medical emergency card or wear a medical alert bracelet that identifies your condition and current medications. In emergency situations, healthcare providers unfamiliar with your condition will need this information to provide appropriate care and avoid administering treatments that could worsen hyperammonaemia.
What Is the Correct Dosage of Carbaglu?
The usual starting dose of Carbaglu is 100 mg per kilogram of body weight per day, up to a maximum of 250 mg/kg/day. For long-term maintenance in NAGS deficiency, the dose typically ranges from 10 to 100 mg/kg/day. The dose is individually adjusted to maintain normal blood ammonia levels. Tablets must be dissolved in water before taking.
Always take Carbaglu exactly as your doctor has instructed. If you are unsure about your dose or how to take the medicine, check with your doctor or pharmacist. The dose of Carbaglu is calculated based on body weight and is individually adjusted for each patient according to their plasma ammonia levels and clinical response. Because of the variable nature of metabolic disorders, there is no single fixed dose that applies to all patients.
Initial Dosing
Starting Dose for All Indications
The recommended initial daily dose is 100 mg per kilogram of body weight, which can be increased up to a maximum of 250 mg/kg/day if clinically needed. For example, a patient weighing 10 kg would start with 1,000 mg (1 g) per day, equivalent to 5 dispersible tablets. The daily dose should be divided into 2 to 4 administrations given before meals or feedings.
Long-Term Maintenance (NAGS Deficiency)
Maintenance Dose: 10–100 mg/kg/day
For patients with NAGS deficiency requiring lifelong treatment, the daily maintenance dose typically ranges between 10 mg and 100 mg per kilogram of body weight. Your doctor will gradually adjust the dose downward from the starting dose, guided by regular monitoring of plasma ammonia levels. The goal is to find the lowest effective dose that keeps ammonia levels within the normal range. Dose adjustments should only be made under medical supervision.
Dosage in Organic Acidaemias
During Hyperammonaemic Crises
In patients with isovaleric acidaemia, methylmalonic acidaemia, or propionic acidaemia, Carbaglu is used during acute hyperammonaemic episodes. The initial dose is 100 mg/kg/day, up to 250 mg/kg/day as needed. Treatment duration is determined by the clinical response and normalisation of ammonia levels. Unlike NAGS deficiency, treatment in organic acidaemias may be discontinued once the acute crisis has resolved, at the discretion of the treating physician.
Dosage Summary by Patient Group
| Patient Group | Starting Dose | Maintenance Dose | Notes |
|---|---|---|---|
| Adults (NAGS deficiency) | 100 mg/kg/day | 10–100 mg/kg/day | Lifelong treatment; divide into 2–4 daily doses |
| Children (NAGS deficiency) | 100 mg/kg/day | 10–100 mg/kg/day | Same weight-based dosing as adults; adjust with growth |
| Neonates (NAGS deficiency) | 100–250 mg/kg/day | 10–100 mg/kg/day | May require higher initial doses; nasogastric administration |
| Organic acidaemias (all ages) | 100–250 mg/kg/day | As needed during crisis | Short-term use during hyperammonaemic episodes |
| Renal impairment | Reduced dose | Individually adjusted | Reduced clearance; monitor closely and adjust dose |
How to Take Carbaglu
Carbaglu should be taken orally before meals or feedings. Follow these steps:
- Place the required number of 200 mg dispersible tablets into a glass or cup
- Add at least 5 to 10 ml of water (the tablets do not dissolve completely but form a suspension)
- Stir gently and take the suspension immediately
- The suspension has a slightly acidic taste
For patients who are unable to take the medicine by mouth (for example, neonates or patients in hyperammonaemic coma), Carbaglu can be administered via a nasogastric tube using a syringe. The dose should be rapidly pushed through the tube that has been placed for enteral feeding.
Missed Dose
If you forget to take a dose, take it as soon as you remember, then continue with your regular dosing schedule. Do not take a double dose to make up for a forgotten dose. If you are unsure what to do, contact your doctor or pharmacist for advice.
Overdose
If you or someone else has taken more Carbaglu than prescribed, seek medical advice immediately. Contact your doctor, pharmacist, or go to your nearest hospital emergency department. Take the medicine packaging with you so that the healthcare team knows exactly what has been taken. Although no specific information about the consequences of Carbaglu overdose is available, increased monitoring of plasma ammonia levels and general supportive care may be required.
For patients with NAGS deficiency, do not stop taking Carbaglu without consulting your doctor. Sudden discontinuation can lead to a rapid and life-threatening rise in blood ammonia levels. If you have questions about your treatment or are experiencing side effects, speak to your doctor who can help you manage the situation safely.
What Are the Side Effects of Carbaglu?
Like all medicines, Carbaglu can cause side effects, although not everyone experiences them. The most commonly reported side effect is increased sweating. Less common effects include slow heart rate, diarrhoea, fever, elevated liver enzymes, and vomiting. Skin rash has been reported at an unknown frequency. Most side effects are mild to moderate.
The safety profile of Carbaglu has been evaluated in clinical studies and through post-marketing experience. Because the conditions treated by Carbaglu are extremely rare, the number of patients studied is relatively small, which means that very rare side effects may not yet have been identified. It is important to report any new or unusual symptoms to your doctor, even if they are not listed here, as this helps to build a more complete understanding of the medicine's safety profile.
The side effects listed below are categorised according to how frequently they have been reported. The frequency categories are defined as follows: very common (may affect more than 1 in 10 patients), common (may affect up to 1 in 10 patients), uncommon (may affect up to 1 in 100 patients), rare (may affect up to 1 in 1,000 patients), very rare (may affect up to 1 in 10,000 patients), and not known (frequency cannot be estimated from the available data).
Common
May affect up to 1 in 10 patients
- Increased sweating (hyperhidrosis)
Uncommon
May affect up to 1 in 100 patients
- Bradycardia (slow heart rate)
- Diarrhoea
- Fever (pyrexia)
- Increased transaminases (elevated liver enzymes)
- Vomiting
Not Known
Frequency cannot be estimated from available data
- Skin rash
It is important to note that many of the symptoms observed in patients taking Carbaglu may also be attributable to the underlying metabolic condition itself rather than to the medicine. For instance, fever, vomiting, and elevated liver enzymes are commonly seen during metabolic crises in patients with urea cycle disorders and organic acidaemias. Your doctor will help determine whether any symptoms you experience are related to Carbaglu, your underlying condition, or another cause.
When to Seek Medical Attention
Contact your doctor promptly if you experience:
- Signs of a severe allergic reaction, such as skin rash, itching, swelling of the face, lips, tongue, or throat, or difficulty breathing
- An unusually slow heartbeat, feeling faint, or dizziness
- Persistent vomiting or diarrhoea that could affect absorption of the medicine
- Yellowing of the skin or eyes, dark urine, or unusual tiredness (possible signs of liver problems)
- Any symptoms suggesting that your ammonia levels may be rising, such as confusion, lethargy, irritability, or loss of appetite
Reporting Side Effects
If you experience any side effects, including those not listed above, talk to your doctor or pharmacist. You can also report suspected side effects directly to your national medicines regulatory authority. Reporting side effects helps to provide more information about the safety of this medicine and enables continuous monitoring of its benefit-risk profile.
How Should You Store Carbaglu?
Unopened Carbaglu should be stored in a refrigerator (2–8°C). Once the bottle is opened, store at room temperature (up to 30°C), keep tightly closed, protect from moisture, and discard remaining tablets 3 months after opening. Keep out of reach of children.
Proper storage is essential to ensure that Carbaglu retains its effectiveness throughout the shelf life. The dispersible tablets are sensitive to moisture, so correct handling and storage are important. Follow the specific instructions below:
- Before opening: Store in a refrigerator at 2°C to 8°C. Do not freeze
- After opening: Store at room temperature, not above 30°C. Do not refrigerate after opening
- Protect from moisture: Keep the bottle tightly closed at all times when not removing a tablet
- Write the opening date: Note the date you first open the bottle on the label. Discard any remaining tablets 3 months after opening, regardless of the printed expiry date
- Expiry date: Do not use Carbaglu after the expiry date stated on the bottle label. The expiry date refers to the last day of the stated month
- Keep out of reach of children: Store the medicine in a safe place where children cannot access it
- Disposal: Do not throw medicines in the wastewater or household waste. Return unused or expired medicines to your pharmacy for safe disposal. These measures help to protect the environment
If you are travelling, keep Carbaglu in its original container with the lid tightly closed. If you need to transport the medicine before opening, use an insulated bag to maintain refrigerator temperatures. Once opened, ensure the temperature does not exceed 30°C. Always carry a doctor's letter explaining your need for the medication, particularly when travelling internationally.
What Does Carbaglu Contain?
Each Carbaglu 200 mg dispersible tablet contains carglumic acid as the active substance. Excipients include microcrystalline cellulose, sodium laurilsulfate, hypromellose, croscarmellose sodium, colloidal anhydrous silica, and sodium stearyl fumarate. The tablets are oblong with score lines for splitting.
Understanding the full composition of Carbaglu is important for identifying any ingredients to which you may be allergic. The active substance and excipients are listed in detail below.
Active Substance
Each dispersible tablet contains 200 mg of carglumic acid. Carglumic acid (chemical name: N-carbamoyl-L-glutamic acid) is a synthetic structural analogue of N-acetylglutamate. It has a molecular weight of 190.15 g/mol and acts as an allosteric activator of the mitochondrial enzyme carbamoyl phosphate synthetase 1.
Excipients (Inactive Ingredients)
- Microcrystalline cellulose: A bulking agent and binder that helps form the tablet structure
- Sodium laurilsulfate: A surfactant that aids in tablet disintegration and dispersion in water
- Hypromellose: A binding agent that contributes to tablet integrity
- Croscarmellose sodium: A superdisintegrant that helps the tablet break apart quickly when placed in water
- Colloidal anhydrous silica: A flow agent that ensures uniform tablet manufacture
- Sodium stearyl fumarate: A lubricant that prevents the tablet from sticking to manufacturing equipment
Physical Description
Carbaglu 200 mg dispersible tablets are white, oblong tablets with four markings on one side and three score lines. The score lines allow the tablet to be broken into quarters if a smaller dose is needed. The tablets are packaged in plastic bottles with child-resistant closures. Available pack sizes are 5, 15, and 60 tablets per bottle. Not all pack sizes may be marketed in your country.
Frequently Asked Questions About Carbaglu
Carbaglu (carglumic acid) is used to treat hyperammonaemia – dangerously high levels of ammonia in the blood – caused by N-acetylglutamate synthase (NAGS) deficiency, a rare inherited metabolic disorder. It is also used during hyperammonaemic crises associated with isovaleric acidaemia, methylmalonic acidaemia, and propionic acidaemia. In NAGS deficiency, treatment with Carbaglu is lifelong.
Carglumic acid acts as a synthetic replacement for N-acetylglutamate (NAG), a molecule that the body normally produces to activate the first enzyme of the urea cycle, carbamoyl phosphate synthetase 1 (CPS 1). In patients who cannot produce NAG (NAGS deficiency), the urea cycle cannot function and ammonia builds up to toxic levels. Carbaglu steps in to activate CPS 1, restoring the urea cycle and enabling the body to convert ammonia into harmless urea for excretion by the kidneys.
Carbaglu tablets should be dissolved in at least 5 to 10 ml of water. They do not fully dissolve but form a suspension with a slightly acidic taste. The suspension should be taken immediately before meals. For neonates and young children, or for patients in coma, the suspension can be administered via a nasogastric tube using a syringe. Never swallow the tablets whole, and do not dissolve them in liquids other than water.
The effects of Carbaglu on pregnancy are not fully known. If you are pregnant or planning to become pregnant, your doctor will carefully evaluate whether the benefits of continued treatment outweigh the potential risks. Because untreated hyperammonaemia itself poses serious dangers to both mother and foetus, the decision should be made in close consultation with a specialist in metabolic medicine. Breastfeeding is not recommended during treatment, as carglumic acid has been found in breast milk in animal studies.
If you forget to take a dose, take it as soon as you remember, then resume your normal dosing schedule. Do not take a double dose to compensate for a missed dose. If you are unsure what to do, contact your doctor or pharmacist. It is particularly important for patients with NAGS deficiency not to miss doses regularly, as this could lead to a rise in blood ammonia levels.
Once the bottle has been opened, store Carbaglu at room temperature (not above 30°C), protected from moisture, with the bottle tightly closed. Write the date of opening on the label and discard any remaining tablets 3 months after the bottle was first opened. Before opening, the tablets should be stored in a refrigerator at 2–8°C.
References
- European Medicines Agency (EMA). Carbaglu – Summary of Product Characteristics. Available at: www.ema.europa.eu/en/medicines/human/EPAR/carbaglu. Accessed January 2026.
- U.S. Food and Drug Administration (FDA). Carbaglu (carglumic acid) Prescribing Information. Approved for NAGS deficiency. Available at: FDA Drug Approvals and Databases. Accessed January 2026.
- Häberle J, Burlina A, Chakrapani A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision. J Inherit Metab Dis. 2019;42(6):1192-1230. doi:10.1002/jimd.12100
- Ah Mew N, Simpson KL, Gropman AL, et al. Urea Cycle Disorders Overview. In: Adam MP, Feldman J, Mirzaa GM, et al., eds. GeneReviews. University of Washington; Updated 2023.
- Daniotti M, la Marca G, Fiorini P, Filippi L. New developments in the treatment of hyperammonemia: emerging use of carglumic acid. Int J Gen Med. 2011;4:21-28. doi:10.2147/IJGM.S10490
- Levrat V, Forest I, Fouilhoux A, et al. Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia? Orphanet J Rare Dis. 2008;3:2. doi:10.1186/1750-1172-3-2
- Ah Mew N, McCarter R, Daikhin Y, et al. N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia. Pediatrics. 2010;126(1):e208-e214. doi:10.1542/peds.2010-0008
- World Health Organization (WHO). WHO Model List of Essential Medicines – 23rd List. Geneva: World Health Organization; 2023.
- Recordati Rare Diseases. Carbaglu Patient Information Leaflet. Last updated November 2025.
Editorial Team
This article was written and medically reviewed by the iMedic Medical Editorial Team, specialists in metabolic medicine, paediatric metabolism, and clinical pharmacology.
Evidence-based content created by medical writers with expertise in rare metabolic diseases and pharmacology. All information is sourced from peer-reviewed literature, regulatory documents (EMA, FDA), and international clinical guidelines.
Reviewed by board-certified physicians with specialist training in inherited metabolic disorders and clinical pharmacology. Our review process follows the GRADE framework for evaluating evidence quality and strength of recommendations.
Evidence Level: 1A – Based on systematic reviews, regulatory approval documents, and international consensus guidelines for the management of urea cycle disorders and organic acidaemias.
Conflict of Interest: None. iMedic receives no funding from pharmaceutical companies and maintains complete editorial independence.
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