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Carnitine palmitoyltransferase 2 deficiency: the time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation.

Author: FukaoToshiyuki, HasegawaYuki, HoriTomohiro, KobayashiHironori, KondoNaomi, TakayanagiMasaki, TeramotoTakahide, YamaguchiSeiji, YasunoTetsuhiko

Case ReportsIn the medical field, a report that describes in detail a unique case, an unusual medical condition, or the effect of a treatment. Provides new insights and possibilities for treatment through individual patient cases.
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Overview

This study examined the time course effects of L-carnitine supplementation in a patient with CPT2 deficiency, a common mitochondrial beta-oxidation disorder. Serum and urinary acylcarnitine profiles were analyzed after L-carnitine supplementation. L-carnitine effectively increased serum carnitine levels, but it took several days for acylcarnitine levels to rise and for urinary excretion of abnormal acylcarnitines to increase, suggesting depletion of intracellular stores. L-carnitine supplementation ultimately led to decreased excretion of medium-chain dicarboxylic carnitines, indicating improvement in tissue acylcarnitine accumulation.
Paper Details　
Original Abstract of the Article :
Carnitine palmitoyltransferase 2 (CPT2) deficiency is one of the most common mitochondrial beta-oxidation defects. A female patient with an infantile form of CPT2 deficiency first presented as having a Reye-like syndrome with hypoglycemic convulsions. Oral L-carnitine supplementation was administere...See full text at original site
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引用元：
https://doi.org/10.1620/tjem.221.191

データ提供：米国国立医学図書館（NLM）

Carnitine Palmitoyltransferase 2 Deficiency: A Journey Through the Desert of Mitochondrial Metabolism

Mitochondrial disorders, like a desert oasis that has dried up, can disrupt the body's energy production processes. This study investigates the time course of blood and urinary acylcarnitine levels in a patient with carnitine palmitoyltransferase 2 (CPT2) deficiency, a common mitochondrial beta-oxidation defect. The researchers monitored the patient's acylcarnitine levels during initial L-carnitine supplementation, aiming to assess the effectiveness of this treatment approach. Their findings highlight the dynamic nature of acylcarnitine levels during L-carnitine supplementation and provide insights into the treatment of this complex mitochondrial disorder.

Navigating the Desert of Mitochondrial Metabolism: Understanding Acylcarnitine Dynamics

The study found that L-carnitine supplementation led to a time-dependent increase in serum free carnitine levels and a subsequent increase in the excretion of abnormal acylcarnitines in urine. This suggests that L-carnitine supplementation can help to replenish depleted intracellular stores of carnitine and promote the excretion of accumulated acylcarnitines, ultimately improving metabolic function in CPT2-deficient patients.

Finding an Oasis of Hope: Strategies for Managing Mitochondrial Disorders

Managing mitochondrial disorders often involves a combination of strategies, including dietary modifications, supplementation, and supportive care. It's important to consult with a healthcare professional to develop a personalized management plan that addresses your specific needs and minimizes potential complications.

Dr. Camel's Conclusion

The desert of mitochondrial metabolism can be a challenging landscape to navigate. This study provides valuable insights into the dynamics of acylcarnitine levels during L-carnitine supplementation, demonstrating the potential of this treatment approach for managing CPT2 deficiency. By embracing innovative treatments and working with healthcare professionals, we can strive to find an oasis of hope and improve the health and well-being of individuals living with mitochondrial disorders.

Date :
  1. Date Completed 2010-09-20
  2. Date Revised 2019-07-27
Further Info :

Pubmed ID

20543534

DOI: Digital Object Identifier

10.1620/tjem.221.191

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Languages

English

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