Clinical and biochemical aspects of carnitine deficiency and insufficiency: transport defects and inborn errors of beta-oxidation
- PMID: 1489518
- DOI: 10.3109/10408369209114601
Clinical and biochemical aspects of carnitine deficiency and insufficiency: transport defects and inborn errors of beta-oxidation
Abstract
Carnitine is required for entry of long chain fatty acids into mitochondria where beta-oxidation occurs. Primary carnitine deficiency, due to a generic defect in cellular carnitine transport, exists in myopathic and systemic forms. Secondary carnitine deficiency may be due to multiplicity of inherited abnormalities, including deficiencies in carnitine palmitoyl-transferase acyl-CoA dehydrogenases, electron transfer flavoprotein, and 3-ketoacyl-CoA-thiolase. The clinical features, diagnosis, and treatment of these conditions are described.
Similar articles
-
Primary and secondary carnitine deficiency syndromes.J Child Neurol. 1995 Nov;10 Suppl 2:S8-24. J Child Neurol. 1995. PMID: 8576570 Review.
-
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.J Biol Chem. 1991 Dec 5;266(34):22932-8. J Biol Chem. 1991. PMID: 1744086
-
Genetic disorders of carnitine metabolism and their nutritional management.Annu Rev Nutr. 1998;18:179-206. doi: 10.1146/annurev.nutr.18.1.179. Annu Rev Nutr. 1998. PMID: 9706223 Review.
-
New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency.Adv Pediatr. 1987;34:59-88. Adv Pediatr. 1987. PMID: 3318304 Review.
-
Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.Molecules. 2020 Apr 13;25(8):1784. doi: 10.3390/molecules25081784. Molecules. 2020. PMID: 32295037 Free PMC article. Review.
Cited by
-
Bacillus licheniformis FA6 Affects Zebrafish Lipid Metabolism through Promoting Acetyl-CoA Synthesis and Inhibiting β-Oxidation.Int J Mol Sci. 2022 Dec 30;24(1):673. doi: 10.3390/ijms24010673. Int J Mol Sci. 2022. PMID: 36614116 Free PMC article.
-
Carnitine deficiency-induced cardiomyopathy.Mol Cell Biochem. 1998 Mar;180(1-2):33-41. Mol Cell Biochem. 1998. PMID: 9546628 Review.
-
A pharmacokinetic model for L-carnitine in patients receiving haemodialysis.Br J Clin Pharmacol. 2007 Sep;64(3):335-45. doi: 10.1111/j.1365-2125.2007.02926.x. Epub 2007 May 15. Br J Clin Pharmacol. 2007. PMID: 17506778 Free PMC article.
-
A fatty acid analogue targeting mitochondria exerts a plasma triacylglycerol lowering effect in rats with impaired carnitine biosynthesis.PLoS One. 2018 Mar 28;13(3):e0194978. doi: 10.1371/journal.pone.0194978. eCollection 2018. PLoS One. 2018. PMID: 29590220 Free PMC article.
-
The role of genetic defects in carnitine-associated hepatic encephalopathy: a review of literature.Gastroenterol Hepatol Bed Bench. 2024;17(4):357-378. doi: 10.22037/ghfbb.v17i4.2960. Gastroenterol Hepatol Bed Bench. 2024. PMID: 40406429 Free PMC article. Review.
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources