Kargluminsyra Waymade: Uses, Dosage & Side Effects
A synthetic analogue of N-acetylglutamate used to treat hyperammonaemia in NAGS deficiency, propionic acidaemia, and methylmalonic acidaemia
Kargluminsyra Waymade (carglumic acid) is an orphan drug used to treat hyperammonaemia – dangerously elevated levels of ammonia in the blood – caused by N-acetylglutamate synthase (NAGS) deficiency, a rare inherited disorder of the urea cycle. It is also indicated for acute hyperammonaemia in propionic acidaemia (PA) and methylmalonic acidaemia (MMA). Carglumic acid works by activating the first enzyme of the urea cycle, carbamoyl phosphate synthetase 1 (CPS1), enabling the body to convert toxic ammonia into urea for safe elimination. Available as a 200 mg dispersible tablet, this prescription-only medication can be life-saving during acute hyperammonaemic crises and is used long-term for maintenance therapy in NAGS deficiency.
Quick Facts: Kargluminsyra Waymade
Key Takeaways
- Kargluminsyra Waymade (carglumic acid) is a life-saving orphan drug that treats hyperammonaemia by activating carbamoyl phosphate synthetase 1 (CPS1), the first enzyme of the urea cycle, replacing the missing natural activator N-acetylglutamate.
- It is indicated for N-acetylglutamate synthase (NAGS) deficiency (both acute and chronic treatment) and for acute hyperammonaemia in propionic acidaemia and methylmalonic acidaemia.
- The dispersible tablets must be dissolved in water before taking – they should never be swallowed whole. The dose is divided into 2 to 4 portions throughout the day, ideally taken before meals.
- Plasma ammonia levels must be closely monitored during treatment, and dosage should be individually titrated to maintain ammonia levels within the normal range for the patient’s age.
- Storage differs before and after opening: refrigerate unopened bottles at 2–8°C, but store at room temperature after opening and discard after 90 days.
What Is Kargluminsyra Waymade and What Is It Used For?
Kargluminsyra Waymade contains the active substance carglumic acid, a synthetic structural analogue of N-acetylglutamate (NAG). NAG is a naturally occurring molecule in the body that plays a critical role in the urea cycle – the metabolic pathway responsible for converting toxic ammonia into urea, which is then safely excreted by the kidneys. In healthy individuals, the enzyme N-acetylglutamate synthase (NAGS) produces NAG, which in turn activates carbamoyl phosphate synthetase 1 (CPS1), the first and rate-limiting enzyme of the urea cycle. When NAGS is deficient or absent due to genetic mutations, NAG cannot be produced, CPS1 remains inactive, and ammonia accumulates to dangerously high levels in the blood – a condition known as hyperammonaemia.
Hyperammonaemia is a medical emergency. Ammonia is highly toxic to the central nervous system, and even brief episodes of severely elevated plasma ammonia can cause irreversible neurological damage, including intellectual disability, seizures, coma, and death. NAGS deficiency is an autosomal recessive disorder and one of the rarest of the urea cycle disorders, with an estimated prevalence of fewer than 1 in 1,000,000 individuals worldwide. Despite its rarity, the condition can present at any age – from neonatal onset (within the first days of life) to adult onset triggered by physiological stress such as illness, surgery, or pregnancy.
Carglumic acid acts as a direct replacement for the missing NAG. Once administered, it crosses the mitochondrial membrane in hepatocytes (liver cells) and binds to the allosteric activation site on CPS1, stimulating the enzyme to catalyse the first step of the urea cycle: the conversion of ammonia and bicarbonate into carbamoyl phosphate. This effectively restores the function of the urea cycle, allowing the body to detoxify ammonia and convert it to urea. The pharmacological action of carglumic acid is highly specific – it targets the precise metabolic block caused by NAGS deficiency.
Kargluminsyra Waymade is approved for the following indications:
- N-acetylglutamate synthase (NAGS) deficiency: Treatment of acute hyperammonaemia and maintenance therapy for chronic hyperammonaemia. This is the primary indication for which carglumic acid was developed. In patients with confirmed NAGS deficiency, carglumic acid is typically used as lifelong therapy to prevent recurrent hyperammonaemic episodes.
- Propionic acidaemia (PA): Adjunctive treatment of acute hyperammonaemia. In PA, the accumulation of propionic acid and its metabolites secondarily inhibits NAGS activity, leading to reduced NAG production and consequent hyperammonaemia. Carglumic acid can bypass this secondary block and restore urea cycle function.
- Methylmalonic acidaemia (MMA): Adjunctive treatment of acute hyperammonaemia. Similar to PA, MMA involves accumulation of organic acids that inhibit NAGS, causing secondary hyperammonaemia that can be treated with carglumic acid.
Before the development of carglumic acid, the only treatment options for NAGS deficiency were dietary protein restriction (to reduce ammonia production) and nitrogen scavenger drugs such as sodium benzoate and sodium phenylbutyrate (to provide alternative pathways for ammonia elimination). While these treatments can reduce ammonia levels, they do not address the underlying enzymatic defect and carry significant limitations. Carglumic acid was the first and remains the only treatment that directly targets the metabolic cause of NAGS deficiency, and clinical experience has demonstrated its ability to normalise plasma ammonia levels rapidly – often within hours of administration.
Carglumic acid holds orphan drug designation in both the European Union and the United States, reflecting the extreme rarity of NAGS deficiency. The originator product, Carbaglu, was first approved by the European Medicines Agency (EMA) in 2003 and by the U.S. Food and Drug Administration (FDA) in 2010. Kargluminsyra Waymade is a generic version containing the same active ingredient at the same strength (200 mg dispersible tablets).
The urea cycle is a series of biochemical reactions that takes place primarily in the liver. Its main function is to convert toxic ammonia – produced by protein metabolism – into urea, a non-toxic compound that is excreted in urine. Any disruption in the urea cycle enzymes, including the regulatory enzyme NAGS, can lead to dangerous ammonia accumulation. Carglumic acid specifically addresses the NAGS step of this pathway.
What Should You Know Before Taking Kargluminsyra Waymade?
Carglumic acid is a specialised orphan medication that should only be prescribed and supervised by physicians with expertise in the management of inherited metabolic diseases, particularly urea cycle disorders. Treatment should ideally be initiated in a metabolic centre with access to appropriate laboratory monitoring, including plasma ammonia, amino acid profiles, and organic acid analysis. The rarity of NAGS deficiency means that most healthcare professionals will have limited experience with this condition, making specialist referral essential.
Contraindications
There are no absolute contraindications listed for carglumic acid beyond hypersensitivity to the active substance or any of the excipients. However, this does not mean the medication is without risk. As with any pharmaceutical treatment, the decision to use carglumic acid must be based on a careful assessment of the potential benefits against the potential risks for each individual patient.
If you have experienced an allergic reaction to carglumic acid or any of the inactive ingredients (including croscarmellose sodium, microcrystalline cellulose, colloidal silicon dioxide, sodium lauryl sulfate, sodium stearyl fumarate, magnesium stearate, mannitol, or povidone), you should not take this medication. Signs of a serious allergic reaction include hives, difficulty breathing, or swelling of the face, lips, tongue, or throat. Seek emergency medical attention immediately if you experience these symptoms.
Warnings and Precautions
Several important precautions should be observed during treatment with Kargluminsyra Waymade:
- Plasma ammonia monitoring: Regular monitoring of plasma ammonia levels is essential throughout treatment. During acute hyperammonaemic episodes, ammonia levels should be checked frequently (potentially every few hours) to guide dose adjustments. During chronic maintenance therapy, periodic monitoring is necessary to ensure ammonia levels remain within the normal range for the patient’s age.
- Renal impairment: Carglumic acid and its metabolites are primarily excreted by the kidneys. In patients with moderate to severe renal impairment, plasma concentrations of carglumic acid may be increased. Dose reduction may be necessary, and renal function should be monitored regularly.
- Dietary management: Carglumic acid therapy does not eliminate the need for dietary protein restriction and other supportive measures during acute hyperammonaemic crises. A comprehensive metabolic management plan, including appropriate nutritional support, should be maintained in conjunction with pharmacological treatment.
- Treatment initiation: When hyperammonaemia is first diagnosed, treatment with carglumic acid should be started before confirmatory diagnostic results for NAGS deficiency are available, as delay in treatment can lead to irreversible neurological damage. If subsequent testing reveals a different cause of hyperammonaemia for which carglumic acid is not indicated, the medication should be discontinued.
- Intercurrent illness: Patients on chronic maintenance therapy should have an emergency plan in place for episodes of metabolic decompensation, which can be triggered by infections, fasting, surgery, or physiological stress. Dose increases may be required during such episodes.
Pregnancy and Breastfeeding
The use of carglumic acid during pregnancy requires careful consideration. There are no adequate and well-controlled studies of carglumic acid in pregnant women. Animal reproductive studies have shown that high doses of carglumic acid are associated with reduced offspring survival, and both high and low doses are associated with reduced growth in offspring. However, untreated NAGS deficiency poses significant risks to both the mother and the fetus, as hyperammonaemia during pregnancy can cause severe neurological damage, encephalopathy, coma, and death.
The decision to use carglumic acid during pregnancy should be made on a case-by-case basis by the treating metabolic specialist, weighing the potential risks of the medication against the known dangers of uncontrolled hyperammonaemia. A pregnancy exposure registry exists to collect information on outcomes in women exposed to carglumic acid during pregnancy.
Carglumic acid has been shown to be excreted in the milk of lactating rats. Because of the potential for serious adverse reactions in nursing infants, breastfeeding is not recommended during treatment with carglumic acid. Women taking this medication should discuss alternative feeding options with their healthcare provider.
Patients with NAGS deficiency and their caregivers should always have an emergency management plan, including readily available supplies of carglumic acid and nitrogen scavenger medications. All family members and close contacts should know the signs of hyperammonaemia (vomiting, lethargy, confusion, irritability in infants) and the steps to take in an emergency. Medical alert identification is recommended.
How Does Kargluminsyra Waymade Interact with Other Drugs?
One of the notable pharmacological characteristics of carglumic acid is the absence of identified clinically significant drug interactions. No formal drug-drug interaction studies have been conducted, which is not unusual for orphan drugs treating ultra-rare conditions where the patient population is too small to support large-scale clinical trials. The available safety data comes from clinical experience spanning more than two decades since the originator product was first approved.
Carglumic acid acts locally within liver mitochondria as an allosteric activator of CPS1. It is not significantly metabolised by cytochrome P450 enzymes, which are the primary enzymes responsible for most drug-drug interactions. Instead, carglumic acid is partially metabolised by intestinal bacterial flora and partially excreted unchanged by the kidneys. This metabolic profile suggests a low potential for pharmacokinetic interactions with other medications.
Despite the absence of known interactions, patients with NAGS deficiency, propionic acidaemia, or methylmalonic acidaemia often require multiple concomitant medications, including:
| Medication | Purpose | Interaction Status |
|---|---|---|
| Sodium benzoate | Nitrogen scavenger – alternative ammonia elimination pathway | No interaction reported; commonly used together in acute crises |
| Sodium phenylbutyrate | Nitrogen scavenger – alternative ammonia elimination pathway | No interaction reported; may be co-administered |
| L-carnitine | Cofactor supplementation in organic acidaemias | No interaction reported; frequently co-prescribed in PA/MMA |
| Biotin | Cofactor supplementation | No interaction reported |
| Metronidazole | Reduction of gut bacteria producing propionic acid | No interaction reported; used in PA management |
| Hydroxocobalamin (vitamin B12) | Cofactor for methylmalonic acid metabolism | No interaction reported; used in B12-responsive MMA |
While the above medications have been used concomitantly with carglumic acid without reported interactions, patients should always inform their treating physician of all prescription and non-prescription medications, supplements, and herbal products they are taking. This is particularly important when starting new medications or adjusting doses, as the pharmacological environment in patients with metabolic disorders can be complex.
Theoretically, medications that significantly impair renal function could increase carglumic acid plasma concentrations, as the kidneys play an important role in its elimination. Nephrotoxic drugs should be used with caution, and renal function monitoring is advisable when such combinations are necessary.
What Is the Correct Dosage of Kargluminsyra Waymade?
Dosing of Kargluminsyra Waymade is individualised based on the underlying condition, the clinical scenario (acute crisis versus chronic maintenance), and the patient’s response as measured by plasma ammonia levels. The tablets must be dispersed in a minimum of 5–10 mL of water before administration. They should not be swallowed whole. The resulting suspension should be consumed immediately; some undissolved particles may remain, which is normal. For patients who cannot swallow, including neonates and young infants, the dispersed tablet suspension can be administered through a nasogastric tube.
Adults and Children – NAGS Deficiency
Acute Hyperammonaemia
The recommended starting dose is 100–250 mg/kg/day, divided into 2 to 4 equal doses (i.e., every 6 to 12 hours). Each individual dose should be rounded to the nearest 100 mg (half tablet). Treatment should be initiated as soon as hyperammonaemia is suspected, even before confirmatory diagnosis. The dose should be adjusted based on plasma ammonia response, with the goal of normalising ammonia levels as rapidly as possible. During acute crises, carglumic acid is typically used alongside other emergency measures including intravenous glucose, nitrogen scavenger drugs, and restriction of protein intake.
Chronic Maintenance Therapy
Once the acute episode has resolved, the dose is typically reduced to a maintenance level of 10–100 mg/kg/day, divided into 2 to 4 doses. The maintenance dose should be individually adjusted to maintain plasma ammonia levels within the normal range for the patient’s age. Some patients may require higher doses during periods of physiological stress (e.g., infection, surgery, growth spurts). Regular monitoring and dose adjustments are essential throughout the patient’s lifetime.
Children – PA and MMA (Acute Hyperammonaemia Only)
| Patient Weight | Daily Dose | Division | Duration |
|---|---|---|---|
| ≤15 kg | 150 mg/kg/day | 2 equal doses (every 12 hours) | Until ammonia <50 µmol/L (max 7 days) |
| >15 kg | 3.3 g/m²/day | 2 equal doses (every 12 hours) | Until ammonia <50 µmol/L (max 7 days) |
In PA and MMA, carglumic acid is used as an adjunctive treatment for acute hyperammonaemic episodes only – it is not approved for chronic maintenance therapy in these conditions. Treatment should be discontinued once ammonia levels have normalised or after a maximum of 7 days.
Elderly
There is very limited clinical experience with carglumic acid in elderly patients. NAGS deficiency is an inherited condition typically diagnosed in infancy or childhood, although late-onset presentations in adulthood have been reported. When treating elderly patients, dose adjustments may be necessary based on renal function, as age-related decline in kidney function can increase plasma concentrations of carglumic acid. Regular monitoring of renal function and plasma ammonia levels is recommended.
Missed Dose
If a dose of Kargluminsyra Waymade is missed, it should be taken as soon as possible. However, if it is almost time for the next scheduled dose, the missed dose should be skipped and the regular dosing schedule resumed. Do not take a double dose to make up for a missed one. Missing doses of carglumic acid can lead to a rise in plasma ammonia levels, potentially triggering a hyperammonaemic episode. Patients and caregivers should be educated about the importance of strict adherence to the dosing schedule.
Overdose
Limited information is available regarding overdose with carglumic acid. In the event of an overdose, symptomatic and supportive measures should be taken. There is no specific antidote. Monitoring of plasma ammonia levels, liver function, kidney function, and general clinical status is advisable. Given the mechanism of action of carglumic acid (activation of CPS1), excessive doses would theoretically lead to increased urea production rather than direct toxicity, but careful medical observation is warranted. Contact your local poison control centre or emergency department for guidance.
Acute hyperammonaemia can cause irreversible brain damage within hours. If you or someone you care for shows signs of a hyperammonaemic crisis – including persistent vomiting, extreme lethargy, confusion, seizures, or loss of consciousness – seek emergency medical attention immediately. Do not wait for ammonia levels to be measured before starting emergency treatment.
What Are the Side Effects of Kargluminsyra Waymade?
Interpreting the side effect profile of carglumic acid presents a unique challenge because patients with NAGS deficiency, propionic acidaemia, and methylmalonic acidaemia have complex underlying conditions that produce many of the same symptoms attributed to the medication. The small patient population (due to the extreme rarity of NAGS deficiency) also limits the statistical power of safety analyses. The following side effect information is compiled from clinical trials, post-marketing surveillance data, and published case reports.
Clinical experience spanning more than two decades suggests that carglumic acid is generally well tolerated. The most frequently reported adverse events are gastrointestinal in nature and are often difficult to distinguish from symptoms of the underlying metabolic disorder. Dose-related effects, particularly nausea and reduced appetite, have been observed in some patients.
Very Common
- Vomiting
- Abdominal pain
- Diarrhoea
- Pyrexia (fever)
- Infections (including tonsillitis, ear infections, nasopharyngitis)
- Anaemia / decreased haemoglobin
- Headache
Common
- Nausea
- Loss of appetite (decreased appetite)
- Increased sweating (hyperhidrosis)
- Asthenia (weakness/fatigue)
- Elevated transaminases (liver enzymes)
- Rash
Uncommon
- Tachycardia (rapid heartbeat)
- Tremor
- Somnolence (drowsiness)
- Weight loss
Rare / Not Known
- Serious allergic reactions (anaphylaxis, angioedema)
- Severe skin reactions
- Pancreatitis
Many of the gastrointestinal side effects (vomiting, abdominal pain, diarrhoea) may be related to the underlying metabolic condition rather than the medication itself. These symptoms are frequently reported in patients with urea cycle disorders and organic acidaemias regardless of treatment. The dispersible tablet formulation may also contribute to mild gastrointestinal irritation in some patients.
Infections are commonly reported in the NAGS deficiency patient population and may reflect the immune dysfunction that can accompany inherited metabolic disorders, rather than a direct immunosuppressive effect of carglumic acid. Similarly, anaemia and decreased haemoglobin are features of the underlying metabolic conditions and are not necessarily caused by the medication.
Long-term safety data from the European registry of NAGS deficiency patients and from post-marketing surveillance have not identified any new safety signals or cumulative toxicity concerns with prolonged use of carglumic acid. Hepatotoxicity (clinically apparent acute liver injury) has not been reported, although mild, transient elevations in liver enzymes have been observed in some patients.
Contact your doctor or seek emergency care immediately if you experience: signs of a serious allergic reaction (hives, difficulty breathing, swelling of face/lips/tongue/throat), severe neurological symptoms (severe headache, confusion, slurred speech, seizures, extreme lethargy), persistent or severe vomiting preventing medication intake, or jaundice (yellowing of the skin or eyes).
How Should You Store Kargluminsyra Waymade?
Proper storage of Kargluminsyra Waymade is essential to maintain the efficacy and safety of the medication. The storage requirements differ significantly depending on whether the bottle has been opened or remains sealed, which is an important distinction for patients and caregivers to understand.
Before opening: Unopened bottles of Kargluminsyra Waymade should be stored in a refrigerator at 2–8°C (36–46°F). Keep the medication in its original container and protect it from light. Do not freeze the tablets. If transporting the medication, take care to maintain appropriate temperature conditions, particularly in warm climates or during travel.
After opening: Once the bottle has been opened, the tablets should no longer be refrigerated. Store the opened bottle at room temperature, 20–25°C (68–77°F). It is critical to keep the bottle tightly closed to protect the tablets from moisture, as carglumic acid dispersible tablets are moisture-sensitive. Write the date of opening on the bottle label immediately upon first opening. Discard any remaining tablets 90 days after the opening date, regardless of how many tablets remain.
As with all medications, keep Kargluminsyra Waymade out of the sight and reach of children. Do not use the medication after the expiry date stated on the packaging. Do not dispose of medications via wastewater or household waste – ask your pharmacist about appropriate disposal methods to help protect the environment.
Patients with NAGS deficiency who require lifelong therapy should maintain an adequate supply of carglumic acid at all times and plan ahead for prescription renewals and potential delivery delays. An emergency supply should be kept in a readily accessible location, and all caregivers should know where it is stored. When travelling, carry sufficient medication for the entire trip plus additional emergency doses, and keep the medication in carry-on luggage during air travel to avoid exposure to extreme temperatures in aircraft cargo holds.
What Does Kargluminsyra Waymade Contain?
Kargluminsyra Waymade tablets contain one active ingredient and several inactive excipients that serve pharmaceutical purposes such as tablet binding, disintegration, lubrication, and flow enhancement.
Active ingredient: Each dispersible tablet contains 200 mg of carglumic acid (also known as N-carbamoyl-L-glutamic acid). The chemical formula is C6H10N2O5 with a molecular weight of 190.16 g/mol. Carglumic acid is a white, crystalline powder that is slightly soluble in cold water and soluble in boiling water. It is practically insoluble in organic solvents.
Inactive ingredients (excipients):
- Microcrystalline cellulose – tablet binder and filler
- Croscarmellose sodium – disintegrant (helps the tablet break apart in water)
- Colloidal silicon dioxide – flow agent (improves powder flow during manufacturing)
- Sodium lauryl sulfate – wetting agent (improves tablet dispersibility)
- Sodium stearyl fumarate – lubricant (prevents tablet from sticking to manufacturing equipment)
- Magnesium stearate – lubricant
- Mannitol – sweetener and filler
- Povidone – binder (holds tablet components together)
The formulation is free from animal-derived excipients. It does not contain lactose, gluten, or artificial colouring agents. The tablets are white to off-white, oblong-shaped, and scored to allow for splitting into halves for dose adjustment. Patients with known sensitivities to any of the listed excipients should inform their healthcare provider before starting treatment.
Frequently Asked Questions
Kargluminsyra Waymade (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 for acute hyperammonaemia in propionic acidaemia (PA) and methylmalonic acidaemia (MMA). The medication works by activating the urea cycle enzyme CPS1, enabling the body to convert toxic ammonia into urea for safe elimination.
Carglumic acid tablets must be dispersed (dissolved) in a small amount of water before swallowing – they should not be swallowed whole. Place the tablet in at least 5–10 mL of water, allow it to dissolve (some particles may remain), and drink the suspension immediately. The total daily dose is divided into 2 to 4 portions throughout the day and should ideally be taken before meals. For patients who cannot swallow, the dispersed tablet can be administered through a nasogastric tube.
The most commonly reported side effects include vomiting, abdominal pain, diarrhoea, and fever. Other frequently observed effects include infections (such as tonsillitis, ear infections, and nasopharyngitis), anaemia, decreased haemoglobin, and headache. Many of these symptoms overlap with features of the underlying metabolic conditions (NAGS deficiency, PA, MMA) and may not be directly caused by the medication.
Carglumic acid should only be used during pregnancy if the potential benefit justifies the potential risk. Animal studies have shown reduced offspring survival and growth at high doses. However, untreated NAGS deficiency poses severe risks including irreversible neurological damage and death. The decision must be made by a metabolic specialist on a case-by-case basis. Breastfeeding is not recommended during treatment. A pregnancy exposure registry is available to monitor outcomes.
Before opening, store in a refrigerator at 2–8°C. After opening the bottle, do not refrigerate – instead, store at room temperature (20–25°C). Keep the bottle tightly closed to protect from moisture. Write the date of opening on the bottle and discard any remaining tablets after 90 days from opening.
Kargluminsyra Waymade contains the same active ingredient (carglumic acid, 200 mg) as the originator product Carbaglu. Both are dispersible tablets that work in the same way to treat hyperammonaemia. Kargluminsyra Waymade is a generic alternative manufactured by Waymade. Your specialist doctor or pharmacist can advise on the suitability of switching between brands.
References
- European Medicines Agency (EMA). Carbaglu (carglumic acid) – Summary of Product Characteristics. Last updated 2025. Available from: ema.europa.eu.
- U.S. Food and Drug Administration (FDA). Carbaglu (carglumic acid) – Prescribing Information. Approved March 2010, revised 2024. Available from: accessdata.fda.gov.
- 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, et al., editors. GeneReviews. Seattle (WA): University of Washington; 1993–2025. 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.
- 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.
- 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.
- Guffon N, Valayannopoulos V, Schiff M, et al. Long-term safety and efficacy of carglumic acid in NAGS deficiency: a retrospective study from the European Registry. Mol Genet Metab. 2023;138(2):107476.
- World Health Organization (WHO). Model List of Essential Medicines for Children. 9th list, 2023.
- National Organization for Rare Disorders (NORD). N-Acetylglutamate Synthase Deficiency. Updated 2024. Available from: rarediseases.org.
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This article was written and reviewed by the iMedic Medical Editorial Team, comprising licensed specialist physicians with expertise in metabolic diseases, clinical genetics, and clinical pharmacology.
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