Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects
Abstract
Carnitine palmitoyltransferase (CPT) deficiencies are common disorders of mitochondrial fatty acid oxidation. The CPT system is made up of two separate proteins located in the outer (CPT1) and inner (CPT2) mitochondrial membranes. While CPT2 is an ubiquitous protein, three tissue-specific CPT1 isoforms--the so-called "liver" (CPT1-A), "muscle" (CPT1B) and <<brain>> (CPT1-C) CPT1s--have been shown to exist. Amino acid and cDNA nucleotide sequences have been identified for all of these proteins. CPT1-A deficiency presents as recurrent attacks of fasting hypoketotic hypoglycemia. Twenty four CPT1A mutations have been reported to date. CPT1-B and -C deficiencies have not been hitherto identified. CPT2 deficiency has several clinical presentations. The "benign" adult form (more than 200 families reported) is characterized by episodes of rhabdomyolysis triggered by prolonged exercise. The prevalent S113L mutation is found in about 50% of mutant alleles. The infantile-type CPT2 presents as severe attacks of hypoketotic hypoglycemia, occasionally associated with cardiac damage commonly responsible for sudden death before 1 year of age. In addition to these symptoms, features of brain and kidney dysorganogenesis are frequently seen in the neonatal-onset CPT2 deficiency, almost always lethal during the first month of life. Around 40 CPT2 mutations (private missense or truncating mutations) have hitherto been detected. Treatment is based upon avoidance of fasting and/or exercise, a low fat diet enriched with medium chain triglycerides and carnitine. Prenatal diagnosis may be offered for pregnancies at a 1/4 risk of infantile/severe-type CPT2 deficiency.
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CPT1A is the liver-specific isoform of the enzyme that converts acyl-CoA to acylcarnitine and allows fatty acids to enter the mitochondrion for β-oxidation.
“CPT1A is the liver-specific isoform of the enzyme that converts acyl-CoA to acylcarnitine and thereby allows fatty acids to enter the mitochondrion where fatty acid -oxidation takes place (27).”
From Expression of miR-33 from an SREBP2 Intron Inhibits Cholesterol Export and Fatty Acid Oxidation* (2010) · cites this paper as [27]
Cites
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“The common occurrence of renal tubular acidosis in these patients is in agreement with the fact that FAO is an important source of energy for kidney and, supports the hypothesis that the CPT1 isoform predominantly expressed in the human kidney CPT1-A, as previously established in rat (McGarry and Brown, 1997).”
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“The phenotypic expression may be highly variable within a family, with a clinical picture ranging from asymptomatic to lethal (Kelly et al., 1989; Schroder et al., 1990; Handig et al., 1996; Vladutiu et al., 2002a,b).”
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- Authors
- BONNEFONT, J.
- Affiliations
- Hôpital Necker-Enfants Malades (FR)
- Corresponding author
- BONNEFONT, J
- ORCID
- BONNEFONT, J
- Venue
- Molecular Aspects of Medicine
- Publisher
- Elsevier BV
- Published
- 2004-12
- Volume
- 25
- Issue
- 5-6
- Pages
- 495-520
- ISSN
- 0098-2997 (ISSN-L)
- OpenAlex
- W2097080554
- Cited by
- 637
- References
- 2
- Citations by year
- 2026: 23 · 2025: 44 · 2024: 40 · 2023: 36 · 2022: 40 · 2021: 49 · 2020: 42 · 2019: 33 · 2018: 37 · 2017: 36 · 2016: 47 · 2015: 32 · 2014: 23 · 2013: 25 · 2012: 28
- FWCI
- 5.86
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Molecular Aspects of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Keywords
- carnitine palmitoyltransferase 1, CPT2, CPT1A, CPT1B, CPT1C, mitochondrial fatty acid oxidation disorders, rhabdomyolysis, cardiac injury, medium-chain triglycerides, carnitine therapy, prenatal diagnosis
- MeSH terms
- Animals, Carnitine O-Palmitoyltransferase, Humans, Metabolic Diseases, Phenotype, Gene Expression Regulation, Enzymologic
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