AI Article Synopsis
- An 8-month-old female patient exhibited fever and myoglobinuria, indicating muscle breakdown and possible metabolic issues.
- The analysis showed significantly reduced activity of carnitine palmitoyltransferase (CPT) II, with a specific mutation (S113L) identified in the CPT II gene contributing to the condition.
- This unusual early presentation with severe fatty acid oxidation impairment suggests that other genetic factors might be involved and underscores the importance of considering CPT II deficiency in cases of unexplained myoglobinuria in infants.
Article Abstract
An 8-month-old female presented with febrile myoglobinuria. The activity of carnitine palmitoyltransferase (CPT) II was decreased to 16% of the control mean, and the oxidation of the long-chain fatty acids was reduced to 25% of the mean in the fibroblasts. Homozygosity for the common mutation, S113L, was identified in the CPT II gene. Residual CPT II activity of more than 10% of the mean and homozygosity for the common mutation S113L are usually associated with a milder reduction of long-chain fatty acid oxidation to about 80% of the control and with a later age of clinical onset. The early clinical presentation in the present patient is unique and was associated with a marked impairment of long-chain fatty acid oxidation, possibly because of other genetic factors. CPT II deficiency should be included in the differential diagnosis of isolated myoglobinuria in infancy.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/s0887-8994(99)00125-3 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Comparison of the effect of medium-chain fatty acids and long-chain fatty acids on postprandial appetite and lipemia: a randomised crossover trial.
BMJ Nutr Prev Health
December 2024
Department of Nutrition and Food Technology, The University of Jordan, Amman, Jordan.
Background: Postprandial lipemia (PPL) has been recognised as a cardiovascular disease risk factor. Appetite and PPL can be influenced by the length of saturated fatty acids (FAs). Thus, this study aims to investigate if different FA chain lengths have different impacts on appetite and PPL in healthy volunteers.
View Article and Find Full Text PDFInhibition of CD36 ameliorates mouse spinal cord injury by accelerating microglial lipophagy.
Acta Pharmacol Sin
January 2025
Oujiang Laboratory (Zhejiang Lab for Regenerative Medicine, Vision and Brain Health), School of Pharmaceutical Sciences, Wenzhou Medical University, Wenzhou, 325035, China.
Spinal cord injury (SCI) is a serious trauma of the central nervous system (CNS). SCI induces a unique lipid-dense environment that results in the deposition of large amounts of lipid droplets (LDs). The presence of LDs has been shown to contribute to the progression of other diseases.
View Article and Find Full Text PDFSynthetic mycolates derivatives to decipher protein mycoloylation, a unique post-translational modification in bacteria.
J Biol Chem
January 2025
Université Paris-Saclay, CEA, CNRS, Institute for Integrative Biology of the Cell (I2BC), 91198, Gif-sur-Yvette, France. Electronic address:
Protein mycoloylation is a newly characterized post-translational modification (PTM) specifically found in Corynebacteriales, an order of bacteria that includes numerous human pathogens. Their envelope is composed of a unique outer membrane, the so-called mycomembrane made of very-long chain fatty acids, named mycolic acids. Recently, some mycomembrane proteins including PorA have been unambiguously shown to be covalently modified with mycolic acids in the model organism Corynebacterium glutamicum by a mechanism that relies on the mycoloyltransferase MytC.
View Article and Find Full Text PDFSpermidine enhances the heat tolerance of by promoting mitochondrial respiration driven by fatty acid β-oxidation.
Appl Environ Microbiol
January 2025
Key Laboratory of Agricultural Environmental Microbiology, Ministry of Agriculture, Department of Microbiology, College of Life Sciences, Nanjing Agricultural University, Nanjing, Jiangsu, China.
Unlabelled: High temperature is an unavoidable environmental stress that generally exerts detrimental effects on organisms and has widespread effects on metabolism. Spermidine is an important member of the polyamines family and is involved in a range of abiotic stress responses in plants. Mitochondria play an essential role in cellular homeostasis and are key components of the stress response.
View Article and Find Full Text PDFSaturated fat in an evolutionary context.
Lipids Health Dis
January 2025
Institute of Health, Oslo New University College, Ullevålsveien 76, Oslo, 0454, Norway.
Evolutionary perspectives have yielded profound insights in health and medical sciences. A fundamental recognition is that modern diet and lifestyle practices are mismatched with the human physiological constitution, shaped over eons in response to environmental selective pressures. This Darwinian angle can help illuminate and resolve issues in nutrition, including the contentious issue of fat consumption.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!