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Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Carnitine Palmitoyltransferase II Deficiency: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Carnitine palmitoyltransferase II deficiency: a case of post-infectious rhabdomyolysis and respiratory failure
Hicret Yeniay et al., Türk yoğun bakım derneği dergisi/Türk yoğun bakım dergisi (24 September 2026)
https://doi.org/10.63729/tjic.2026.705
- 2.
Perioperative Management of Carnitine Palmitoyltransferase II Deficiency in Cardiac Surgery: Prevention of Metabolic and Cardiovascular Complications
Ms Lucía Del Rio Prieto et al., Journal of Cardiothoracic and Vascular Anesthesia (1 September 2026)
https://doi.org/10.1053/j.jvca.2026.08.019
- 3.
Propofol infusion syndrome in an infant after low-dose and short duration administration revealing carnitine palmitoyltransferase 2 deficiency.
Bustos B Raul et al., British journal of anaesthesia (1 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42230208/
- 4.
High dietary fat causes muscle structural breakdown, mitochondrial dysfunction, and contractile deficits in the absence of carnitine palmitoyltransferase 2.
Pereyra Andrea S et al., Molecular genetics and metabolism (1 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42341673/
- 5.
Comparison of Four Screening Markers [(C16 + C18:1)/C2, C14/C3, C12/C0, and C12/C2] for Carnitine Palmitoyltransferase II Deficiency in the Nationwide Newborn Screening Program in Japan.
Tajima Go et al., International journal of neonatal screening (15 May 2026)
https://pubmed.ncbi.nlm.nih.gov/42201228/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Carnitine Palmitoyltransferase II Deficiency
Carnitine palmitoyltransferase II deficiency is an inherited condition that stops the body turning fat into energy properly. The most common form causes muscle pain, weakness and dark urine after exercise, fasting or illness. Rarer forms appear in babies and affect the heart, liver and brain. Management focuses on avoiding triggers, diet changes and urgent care during illness.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
Carnitine palmitoyltransferase II (CPT-II) deficiency is an autosomal recessive inherited metabolic disorder and represents the most common genetic cause of recurrent rhabdomyolysis in adulthood. The clinical course is characterized by episodic attacks precipitated by intense physical exertion, infections, psychological stress, or other physical and emotional stressors. Although avoidance or early recognition of triggering factors plays a critical role in prognosis, many patients continue to experience recurrent episodes of rhabdomyolysis. Management primarily focuses on elimination of precipitating factors and meticulous correction of fluid and electrolyte imbalances. Prompt recognition of CPT-II deficiency and rapid identification and management of rhabdomyolysis triggers are essential for preventing life-threatening complications. We report the clinical characteristics, therapeutic interventions, and outcome of a 31-year-old male patient with known CPT-II deficiency. The patient presented with dyspnea and generalized muscle weakness following an infectious episode. Laboratory evaluation revealed markedly elevated creatine kinase levels, and rhabdomyolysis secondary to CPT-II deficiency was diagnosed. The patient received supportive management, including intravenous fluid therapy for electrolyte stabilization, close monitoring in the intensive care unit, and treatment with triheptanoin. His symptoms improved gradually, and he was discharged in stable condition with recommendations emphasizing avoidance of known triggers and long-term disease management. This report aims to underscore the importance of early diagnosis and timely therapeutic intervention in the management of CPT-II deficiency.
Common Questions
What is Carnitine Palmitoyltransferase II Deficiency?
Carnitine palmitoyltransferase II deficiency is an inherited condition that stops the body turning fat into energy properly. The most common form causes muscle pain, weakness and dark urine after exercise, fasting or illness. Rarer forms appear in babies and affect the heart, liver and brain. Management focuses on avoiding triggers, diet changes and urgent care during illness.
How many clinical trials are available for Carnitine Palmitoyltransferase II Deficiency?
RareWays currently indexes 4 clinical trials for Carnitine Palmitoyltransferase II Deficiency. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.
Where does the research data for Carnitine Palmitoyltransferase II Deficiency come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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