RARE DISEASE
Carnitine-acylcarnitine translocase deficiency
Carnitine-acylcarnitine translocase deficiency
Carnitine-acylcarnitine translocase deficiency
Synonyms: CACT deficiency
Synonyms: CACT deficiency
Synonyms: CACT deficiency
Drug discovery
1
drug
With orphan designation
Overview
Carnitine-acylcarnitine translocase deficiency (CACTD) is an autosomal recessive disorder caused by SLC25A20 mutations, impairing mitochondrial long-chain fatty acid transport. It manifests with hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy, hepatic dysfunction, and encephalopathy. Severe neonatal forms (often fatal <3 months) show rapid metabolic decompensation, while milder childhood-onset cases exhibit episodic crises triggered by fasting/illness [1][3][4]. Diagnosis relies on elevated C16-C18 acylcarnitines, genetic testing, and enzyme assays [1][6].
Burden
Mortality: >65% in neonatal-onset cases, often due to cardiorespiratory collapse [8][10]
Morbidity: Survivors frequently develop neurodevelopmental delays, refractory epilepsy, and chronic cardiomyopathy [3][7]
Healthcare utilization: Requires lifelong multidisciplinary care with high risk of acute decompensation requiring ICU admissions [4][10]
Therapies
Dietary: Strict fasting avoidance, low long-chain fat intake, and MCT supplementation (limited C10/C12 content) [1][3][12]
Pharmacologic: L-carnitine supplementation to counteract deficiency [1][12]; IV glucose during acute crises [3][6]
Monitoring: Regular cardiac/hepatic assessments and metabolic control during intercurrent illnesses [4][6]
Categories: rare cardiac diseases, rare genetic diseases, rare inborn errors of metabolism, rare neurological diseases, rare transplant-related disorders
Research Papers
48 drug discovery papers about Carnitine-acylcarnitine translocase deficiency, with 4 next-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
48 drug discovery papers about Carnitine-acylcarnitine translocase deficiency, with 4 next-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
categories:
Small molecules
small molecules
2025-03-19 | Palmitoyl-carnitine Regulates Lung Development by Promoting Pulmonary Mesenchyme Proliferation.
Disruption of acylcarnitine homeostasis results in life-threatening outcomes in humans. Carnitine-acylcarnitine translocase deficiency (CACTD) is a scarce autosomal recessive genetic disease and may result in patients' death due to heart arrest or respiratory insufficiency. However, the reasons and mechanism of CACTD inducing respiratory insufficiency have never been elucidated. Herein, we employed lipidomic techniques to create comprehensive lipidomic maps of entire lungs throughout both prenatal and postnatal developmental stages in mice. We found that the acylcarnitines manifested notable variations and coordinated the expression levels of carnitine-acylcarnitine translocase (Cact) across these lung developmental stages. Cact-null mice were all dead with a symptom of respiratory distress and exhibited failed lung development. Loss of Cact resulted in an accumulation of palmitoyl-carnitine (C16-acylcarnitine) in the lungs and promoted the proliferation of mesenchymal progenitor cells. Mesenchymal cells with elevated C16-acylcarnitine levels displayed minimal changes in energy metabolism but, upon investigation, revealed an interaction with sterile alpha motif domain and histidine-aspartate domain-containing protein 1 (Samhd1), leading to decreased protein abundance and enhanced cell proliferation. Thus, our findings present a mechanism addressing respiratory distress in CACTD, offering a valuable reference point for both the elucidation of pathogenesis and the exploration of treatment strategies for neonatal respiratory distress.
2025-03-17 | Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study.
Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare autosomal recessive fatty acid oxidation disorder resulting in energy deficiency due to impaired mitochondrial long-chain fatty acid transport. Hyperammonemia is a critical complication, often resistant to conventional treatment. Here, we report the case of a 7-month-old patient with CACTD, initially diagnosed at 10 days old, who presented with persistent hyperammonemia despite optimized medical nutrition therapy and conventional nitrogen scavenging with sodium benzoate. When hyperammonemia persisted, carglumic acid was introduced, leading to a sustained decrease in ammonia levels and effective long-term control. Carglumic acid, typically indicated for organic acidemias, proved beneficial in this CACTD case. The administration of carglumic acid not only provided acute resolution but also stabilized ammonia levels over prolonged follow-up. This case highlights carglumic acid as a potential therapeutic option for managing hyperammonemia in CACTD, underscoring the need for further studies to confirm its efficacy in long-term management of hyperammonemia in fatty acid oxidation disorders.
2023-06-19 | Triheptanoin for the treatment of long‐chain fatty acid oxidation disorders: Final results of an open‐label, long‐term extension study
Abstract Long‐chain fatty acid oxidation disorders (LC‐FAODs) result in life‐threatening energy metabolism deficiencies/energy source depletion. Triheptanoin is an odd‐carbon, medium chain triglyceride (that is an anaplerotic substrate of calories and fatty acids) for treating pediatric and adult patients with LC‐FAODs. Study CL202 (NCT02214160), an open‐label extension study of study CL201 (NCT01886378), evaluated the long‐term safety/efficacy of triheptanoin in patients with LC‐FAODs ( N = 94), including cohorts who were triheptanoin naïve ( n = 33) or had received triheptanoin in study CL201 ( n = 24) or in investigator‐sponsored trials/expanded access programs (IST/EAPs; n = 37). Primary endpoint was the annualized rate of LC‐FAOD major clinical events (MCEs; rhabdomyolysis, hypoglycemia, cardiomyopathy). Mean ± standard deviation (SD) triheptanoin treatment durations were 27.4 ± 19.9, 46.9 ± 13.6, and 49.6 ± 21.4 months for the triheptanoin‐naïve, CL201 rollover, and IST/EAP cohorts, respectively. In the triheptanoin‐naïve cohort, median (interquartile range [IQR]) MCE rate significantly decreased from 2.00 (0.67–3.33) events/patient/year pre‐triheptanoin to 0.28 (0.00–1.43) events/patient/year with triheptanoin ( p = 0.0343), a reduction of 86%. In the CL201 rollover cohort, mean ± SD MCE rate significantly decreased from 1.76 ± 1.64 events/patient/year pre‐triheptanoin to 1.00 ± 1.00 events/patient/year with triheptanoin ( p = 0.0347), a reduction of 43%. In the IST/EAP cohort, mean ± SD MCE rate was 1.40 ± 2.37 (median [IQR] 0.57 [0.00–1.67]) events/patient/year with triheptanoin. Safety data were consistent with previous observations. Treatment‐related treatment‐emergent adverse events (TEAEs) occurred in 68.1% of patients and were mostly mild/moderate in severity. Five patients had seven serious treatment‐related TEAEs; all resolved. Our results confirm the long‐term efficacy of triheptanoin for patients with LC‐FAOD.
2021-03-29 | New insights into carnitine‐acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches
Carnitine acyl-carnitine translocase deficiency (CACTD) is a rare autosomal recessive disorder of mitochondrial long-chain fatty-acid transport. Most patients present in the first 2 days of life, with hypoketotic hypoglycaemia, hyperammonaemia, cardiomyopathy or arrhythmia, hepatomegaly and elevated liver enzymes. Multi-centre international retrospective chart review of clinical presentation, biochemistry, treatment modalities including diet, subsequent complications, and mode of death of all patients. Twenty-three patients from nine tertiary metabolic units were identified. Seven attenuated patients of Pakistani heritage, six of these homozygous c.82G>T, had later onset manifestations and long-term survival without chronic hyperammonemia. Of the 16 classical cases, 15 had cardiac involvement at presentation comprising cardiac arrhythmias (9/15), cardiac arrest (7/15), and cardiac hypertrophy (9/15). Where recorded, ammonia levels were elevated in all but one severe case (13/14 measured) and 14/16 had hypoglycaemia. Nine classical patients survived longer-term-most with feeding difficulties and cognitive delay. Hyperammonaemia appears refractory to ammonia scavenger treatment and carglumic acid, but responds well to high glucose delivery during acute metabolic crises. High-energy intake seems necessary to prevent decompensation. Anaplerosis utilising therapeutic d,l-3-hydroxybutyrate, Triheptanoin and increased protein intake, appeared to improve chronic hyperammonemia and metabolic stability where trialled in individual cases. CACTD is a rare disorder of fatty acid oxidation with a preponderance to severe cardiac dysfunction. Long-term survival is possible in classical early-onset cases with long-chain fat restriction, judicious use of glucose infusions, and medium chain triglyceride supplementation. Adjunctive therapies supporting anaplerosis may improve longer-term outcomes.
2021-02-10 | Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 months
Triheptanoin provides long-chain fatty acid oxidation disorder (LC-FAOD) patients with an alternative to medium-even-chain triglycerides therapy. Retrospective analysis of 18 French LC-FAOD patients benefiting from early access to triheptanoin treatment. Eight female and 10 male patients with LC-FAOD (VLCAD, LCHAD, CACT, CPTII and MTP) were treated with triheptanoin for a median duration of 22 months (range: 9–228 months). At last consultation, triheptanoin accounted for 15–35% of their daily caloric intake. In the year following the introduction of triheptanoin, patients reported a reduction of intermittent snacking and nocturnal meals. Three patients, including 1 adult, became free of severe hypoglycaemic events. Ten of 12 paediatric patients and 4 of 6 adult patients reported reduced fatigue with reductions in the number and severity of episodes of myalgia. Of 6 patients, including 1 adult, that had required the use of a wheelchair in the year prior to triheptanoin, all but one no longer required its use. The number of emergency hospitalizations decreased, and none were recorded for paediatric patients during these 12 months. Cumulative annual days of emergency care in the home were reduced from 286 to 51 days in the year before and after initiation, respectively, and 13 patients required no such interventions. Adverse events were limited to digestive issues that dissipated over time. Our case-series suggests that long-term treatment of LC-FAOD paediatric and adult patients with triheptanoin is safe and leads to marked improvement of symptoms and an improved quality of life.
gene therapies
2024-12-09 | Homozygous slc25a20 zebrafish mutant reveals insights into carnitine-acylcarnitine translocase deficiency pathogenesis.
The SLC25A20 gene encodes carnitine-acylcarnitine translocase (CACT), facilitating the transport of long-chain acylcarnitine required for energy production via β-oxidation into the mitochondria. Loss-of-function mutations in this gene lead to CACT deficiency, a rare autosomal recessive disorder of fatty acid metabolism characterized by severe symptoms including cardiomyopathy, hepatic dysfunction, rhabdomyolysis, hypoketotic hypoglycemia, and hyperammonemia, often resulting in neonatal mortality. Here, we utilized CRISPR/Cas9 gene editing to isolate slc25a20 mutant zebrafish. Homozygous mutants displayed significant lethality, with the majority succumbing before reaching maturity. However, we identified a notably rare homozygous individual that survived into adulthood, prompting a histological examination. Firstly, we observed adipose tissue accumulation at various sites in the homozygous mutant. The mutant heart exhibited hypertrophy, along with degenerated myocardial and muscle cells containing numerous eosinophilic nuclei. Additionally, we found no large oil droplet vacuoles in the mutant liver; however, the hepatocytes displayed numerous small vacuoles resembling lipid droplets. Iron deposition was evident in the spleen and parts of the liver. Overall, our slc25a20 zebrafish mutant displayed tissue pathologies analogous to human CACT deficiency, suggesting its potential as a pathological model contributing to the elucidation of pathogenesis and the improvement/development of therapies for CACT deficiency.
cell therapies
2025-09-29 | Successful Management by Selective Embryo in the Carnitine-acylcarnitine Translocase Deficiency with SLC25A20 C.199-10T>G Variation: The First Case Report from Vietnam and Literature Review.
Carnitine-acylcarnitine translocase deficiency with SLC25A20 c.199-10T>G variation is a rare condition, typically associated with severe neonatal outcomes. Recently, preimplantation genetic testing (PGT) has emerged as a screening test applicable to embryos produced through in vitro fertilization for genetic analysis before transfer. Thus, PGT allows for the identification and elimination of embryos carrying inherited genetic diseases. This case report aims to present data from PGT on intervention in the management of SLC25A20 c.199-10T>G variation, particularly in middle-income countries. A 26-year-old woman with a high-risk term pregnancy and a history of two sudden neonatal deaths underwent parental carrier testing, revealing heterozygous SLC25A20 c.199-10T>G variation in both parents. The subsequent pregnancy, identified as a homozygous for SLC25A20 c.199-10T>G mutation, was terminated at 20 weeks. The current pregnancy was successfully managed by in vitro fertilization-selective embryo transfer. Carnitine-acylcarnitine translocase deficiency owing to SLC25A20 c.199-10T>G variation can result in sudden neonatal collapse. Obstetricians should maintain a high index of suspicion in recurrent cases of unexplained early neonatal death. Parental carrier testing is crucial for prenatal management, and selective embryo transfer is a core treatment for heterozygous SLC25A20 gene carriers in this highly lethal disorder.
small molecules
2025-03-19 | Palmitoyl-carnitine Regulates Lung Development by Promoting Pulmonary Mesenchyme Proliferation.
Disruption of acylcarnitine homeostasis results in life-threatening outcomes in humans. Carnitine-acylcarnitine translocase deficiency (CACTD) is a scarce autosomal recessive genetic disease and may result in patients' death due to heart arrest or respiratory insufficiency. However, the reasons and mechanism of CACTD inducing respiratory insufficiency have never been elucidated. Herein, we employed lipidomic techniques to create comprehensive lipidomic maps of entire lungs throughout both prenatal and postnatal developmental stages in mice. We found that the acylcarnitines manifested notable variations and coordinated the expression levels of carnitine-acylcarnitine translocase (Cact) across these lung developmental stages. Cact-null mice were all dead with a symptom of respiratory distress and exhibited failed lung development. Loss of Cact resulted in an accumulation of palmitoyl-carnitine (C16-acylcarnitine) in the lungs and promoted the proliferation of mesenchymal progenitor cells. Mesenchymal cells with elevated C16-acylcarnitine levels displayed minimal changes in energy metabolism but, upon investigation, revealed an interaction with sterile alpha motif domain and histidine-aspartate domain-containing protein 1 (Samhd1), leading to decreased protein abundance and enhanced cell proliferation. Thus, our findings present a mechanism addressing respiratory distress in CACTD, offering a valuable reference point for both the elucidation of pathogenesis and the exploration of treatment strategies for neonatal respiratory distress.
2025-03-17 | Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study.
Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare autosomal recessive fatty acid oxidation disorder resulting in energy deficiency due to impaired mitochondrial long-chain fatty acid transport. Hyperammonemia is a critical complication, often resistant to conventional treatment. Here, we report the case of a 7-month-old patient with CACTD, initially diagnosed at 10 days old, who presented with persistent hyperammonemia despite optimized medical nutrition therapy and conventional nitrogen scavenging with sodium benzoate. When hyperammonemia persisted, carglumic acid was introduced, leading to a sustained decrease in ammonia levels and effective long-term control. Carglumic acid, typically indicated for organic acidemias, proved beneficial in this CACTD case. The administration of carglumic acid not only provided acute resolution but also stabilized ammonia levels over prolonged follow-up. This case highlights carglumic acid as a potential therapeutic option for managing hyperammonemia in CACTD, underscoring the need for further studies to confirm its efficacy in long-term management of hyperammonemia in fatty acid oxidation disorders.
2023-06-19 | Triheptanoin for the treatment of long‐chain fatty acid oxidation disorders: Final results of an open‐label, long‐term extension study
Abstract Long‐chain fatty acid oxidation disorders (LC‐FAODs) result in life‐threatening energy metabolism deficiencies/energy source depletion. Triheptanoin is an odd‐carbon, medium chain triglyceride (that is an anaplerotic substrate of calories and fatty acids) for treating pediatric and adult patients with LC‐FAODs. Study CL202 (NCT02214160), an open‐label extension study of study CL201 (NCT01886378), evaluated the long‐term safety/efficacy of triheptanoin in patients with LC‐FAODs ( N = 94), including cohorts who were triheptanoin naïve ( n = 33) or had received triheptanoin in study CL201 ( n = 24) or in investigator‐sponsored trials/expanded access programs (IST/EAPs; n = 37). Primary endpoint was the annualized rate of LC‐FAOD major clinical events (MCEs; rhabdomyolysis, hypoglycemia, cardiomyopathy). Mean ± standard deviation (SD) triheptanoin treatment durations were 27.4 ± 19.9, 46.9 ± 13.6, and 49.6 ± 21.4 months for the triheptanoin‐naïve, CL201 rollover, and IST/EAP cohorts, respectively. In the triheptanoin‐naïve cohort, median (interquartile range [IQR]) MCE rate significantly decreased from 2.00 (0.67–3.33) events/patient/year pre‐triheptanoin to 0.28 (0.00–1.43) events/patient/year with triheptanoin ( p = 0.0343), a reduction of 86%. In the CL201 rollover cohort, mean ± SD MCE rate significantly decreased from 1.76 ± 1.64 events/patient/year pre‐triheptanoin to 1.00 ± 1.00 events/patient/year with triheptanoin ( p = 0.0347), a reduction of 43%. In the IST/EAP cohort, mean ± SD MCE rate was 1.40 ± 2.37 (median [IQR] 0.57 [0.00–1.67]) events/patient/year with triheptanoin. Safety data were consistent with previous observations. Treatment‐related treatment‐emergent adverse events (TEAEs) occurred in 68.1% of patients and were mostly mild/moderate in severity. Five patients had seven serious treatment‐related TEAEs; all resolved. Our results confirm the long‐term efficacy of triheptanoin for patients with LC‐FAOD.
2021-03-29 | New insights into carnitine‐acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches
Carnitine acyl-carnitine translocase deficiency (CACTD) is a rare autosomal recessive disorder of mitochondrial long-chain fatty-acid transport. Most patients present in the first 2 days of life, with hypoketotic hypoglycaemia, hyperammonaemia, cardiomyopathy or arrhythmia, hepatomegaly and elevated liver enzymes. Multi-centre international retrospective chart review of clinical presentation, biochemistry, treatment modalities including diet, subsequent complications, and mode of death of all patients. Twenty-three patients from nine tertiary metabolic units were identified. Seven attenuated patients of Pakistani heritage, six of these homozygous c.82G>T, had later onset manifestations and long-term survival without chronic hyperammonemia. Of the 16 classical cases, 15 had cardiac involvement at presentation comprising cardiac arrhythmias (9/15), cardiac arrest (7/15), and cardiac hypertrophy (9/15). Where recorded, ammonia levels were elevated in all but one severe case (13/14 measured) and 14/16 had hypoglycaemia. Nine classical patients survived longer-term-most with feeding difficulties and cognitive delay. Hyperammonaemia appears refractory to ammonia scavenger treatment and carglumic acid, but responds well to high glucose delivery during acute metabolic crises. High-energy intake seems necessary to prevent decompensation. Anaplerosis utilising therapeutic d,l-3-hydroxybutyrate, Triheptanoin and increased protein intake, appeared to improve chronic hyperammonemia and metabolic stability where trialled in individual cases. CACTD is a rare disorder of fatty acid oxidation with a preponderance to severe cardiac dysfunction. Long-term survival is possible in classical early-onset cases with long-chain fat restriction, judicious use of glucose infusions, and medium chain triglyceride supplementation. Adjunctive therapies supporting anaplerosis may improve longer-term outcomes.
2021-02-10 | Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 months
Triheptanoin provides long-chain fatty acid oxidation disorder (LC-FAOD) patients with an alternative to medium-even-chain triglycerides therapy. Retrospective analysis of 18 French LC-FAOD patients benefiting from early access to triheptanoin treatment. Eight female and 10 male patients with LC-FAOD (VLCAD, LCHAD, CACT, CPTII and MTP) were treated with triheptanoin for a median duration of 22 months (range: 9–228 months). At last consultation, triheptanoin accounted for 15–35% of their daily caloric intake. In the year following the introduction of triheptanoin, patients reported a reduction of intermittent snacking and nocturnal meals. Three patients, including 1 adult, became free of severe hypoglycaemic events. Ten of 12 paediatric patients and 4 of 6 adult patients reported reduced fatigue with reductions in the number and severity of episodes of myalgia. Of 6 patients, including 1 adult, that had required the use of a wheelchair in the year prior to triheptanoin, all but one no longer required its use. The number of emergency hospitalizations decreased, and none were recorded for paediatric patients during these 12 months. Cumulative annual days of emergency care in the home were reduced from 286 to 51 days in the year before and after initiation, respectively, and 13 patients required no such interventions. Adverse events were limited to digestive issues that dissipated over time. Our case-series suggests that long-term treatment of LC-FAOD paediatric and adult patients with triheptanoin is safe and leads to marked improvement of symptoms and an improved quality of life.
gene therapies
2024-12-09 | Homozygous slc25a20 zebrafish mutant reveals insights into carnitine-acylcarnitine translocase deficiency pathogenesis.
The SLC25A20 gene encodes carnitine-acylcarnitine translocase (CACT), facilitating the transport of long-chain acylcarnitine required for energy production via β-oxidation into the mitochondria. Loss-of-function mutations in this gene lead to CACT deficiency, a rare autosomal recessive disorder of fatty acid metabolism characterized by severe symptoms including cardiomyopathy, hepatic dysfunction, rhabdomyolysis, hypoketotic hypoglycemia, and hyperammonemia, often resulting in neonatal mortality. Here, we utilized CRISPR/Cas9 gene editing to isolate slc25a20 mutant zebrafish. Homozygous mutants displayed significant lethality, with the majority succumbing before reaching maturity. However, we identified a notably rare homozygous individual that survived into adulthood, prompting a histological examination. Firstly, we observed adipose tissue accumulation at various sites in the homozygous mutant. The mutant heart exhibited hypertrophy, along with degenerated myocardial and muscle cells containing numerous eosinophilic nuclei. Additionally, we found no large oil droplet vacuoles in the mutant liver; however, the hepatocytes displayed numerous small vacuoles resembling lipid droplets. Iron deposition was evident in the spleen and parts of the liver. Overall, our slc25a20 zebrafish mutant displayed tissue pathologies analogous to human CACT deficiency, suggesting its potential as a pathological model contributing to the elucidation of pathogenesis and the improvement/development of therapies for CACT deficiency.
cell therapies
2025-09-29 | Successful Management by Selective Embryo in the Carnitine-acylcarnitine Translocase Deficiency with SLC25A20 C.199-10T>G Variation: The First Case Report from Vietnam and Literature Review.
Carnitine-acylcarnitine translocase deficiency with SLC25A20 c.199-10T>G variation is a rare condition, typically associated with severe neonatal outcomes. Recently, preimplantation genetic testing (PGT) has emerged as a screening test applicable to embryos produced through in vitro fertilization for genetic analysis before transfer. Thus, PGT allows for the identification and elimination of embryos carrying inherited genetic diseases. This case report aims to present data from PGT on intervention in the management of SLC25A20 c.199-10T>G variation, particularly in middle-income countries. A 26-year-old woman with a high-risk term pregnancy and a history of two sudden neonatal deaths underwent parental carrier testing, revealing heterozygous SLC25A20 c.199-10T>G variation in both parents. The subsequent pregnancy, identified as a homozygous for SLC25A20 c.199-10T>G mutation, was terminated at 20 weeks. The current pregnancy was successfully managed by in vitro fertilization-selective embryo transfer. Carnitine-acylcarnitine translocase deficiency owing to SLC25A20 c.199-10T>G variation can result in sudden neonatal collapse. Obstetricians should maintain a high index of suspicion in recurrent cases of unexplained early neonatal death. Parental carrier testing is crucial for prenatal management, and selective embryo transfer is a core treatment for heterozygous SLC25A20 gene carriers in this highly lethal disorder.
Access all drug discovery papers and probability of success in trials forecasts:
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Drug Discovery Landscape
1 orphan drug designation for Carnitine-acylcarnitine translocase deficiency.
1 orphan drug designation for Carnitine-acylcarnitine translocase deficiency.
Drug | Therapy type | Orphan designation | Clinical trial status | Sponsor |
|---|---|---|---|---|
Triheptanoin | small molecules | EMA | Ultragenyx Netherlands B.V. |
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