ArticleJournal of inherited metabolic disease2003
Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.
Article in Journal of inherited metabolic disease, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 52 citations in OpenAlex.
- Clinical characteristics and genetic analysis of six children with carnitine palmitoyltransferase 2 deficiency.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2024Article
- Normal Thermostability of p.Ser113Leu and p.Arg631Cys Variants of Mitochondrial Carnitine Palmitoyltransferase II (CPT II) in Human Muscle Homogenate.Metabolites · 2022Article
- Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target?International journal of neonatal screening · 2021Article
- Schizophrenic Psychosis Symptoms in a Background of Mild-To-Moderate Carnitine Palmitoyltransferase II Deficiency: A Case Report.Reports (MDPI) · 2020Article
- Genetic test for Mendelian fatigue and muscle weakness syndromes.Acta bio-medica : Atenei Parmensis · 2020Review
- Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.Molecules (Basel, Switzerland) · 2020Review
- Carnitine palmitoyltransferase II deficiency with a focus on newborn screening.Journal of human genetics · 2019Review
- Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt.Molecular genetics and metabolism reports · 2018Article
- Inborn Errors of Metabolism with Myopathy: Defects of Fatty Acid Oxidation and the Carnitine Shuttle System.Pediatric clinics of North America · 2018Review
- Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle.Reviews in endocrine & metabolic disorders · 2018Review
- Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.International journal of molecular sciences · 2017Review
- Stabilization of the thermolabile variant S113L of carnitine palmitoyltransferase II.Neurology. Genetics · 2016Article
- Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders.Molecular genetics and metabolism reports · 2015Article
- Abbreviated half-lives and impaired fuel utilization in carnitine palmitoyltransferase II variant fibroblasts.PloS one · 2015Article
- Laryngeal spasm mimicking asthma and vitamin d deficiency.Allergy, asthma & immunology research · 2014Article
- Evaluation of the child with suspected mitochondrial liver disease.Journal of pediatric gastroenterology and nutrition · 2013Review
- Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.Journal of inherited metabolic disease · 2013Review
- Pathophysiology of fatty acid oxidation disorders.Journal of inherited metabolic disease · 2010Review
- Inborn errors of energy metabolism associated with myopathies.Journal of biomedicine & biotechnology · 2010Review
Corrections and comments
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Authors and funding
15 authors at 8 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Carnitine palmitoyltransferase type II (CPT II) deficiency has three basic phenotypes, late-onset muscular (mild), infantile/juvenile hepatic (intermediate) and severe neonatal. We have measured fatty acid oxidation and CPT II activity and performed mutation studies in 24 symptomatic patients representing the full clinical spectrum of disease. Severe and intermediate phenotypes show a clear correlation with biochemical indices and genetic analysis revealed causative mutations in most patients. Studies of mild phenotypes suggest a more complex interaction, with higher residual fatty acid oxidation, a wider range of CPT II activity (10-60%) but little evidence of genotype-phenotype correlation. Residual CPT II mutant protein from myopathic patients shows thermal instability at 41 degrees C. The common 'polymorphisms' V3681 and M647V are strikingly overrepresented in the myopathic patients, the implication being that they may significantly influence the manifestation of clinical disease and could therefore potentially be considered as a susceptibility variants. Among myopathic individuals, males comprised 88% of patients, suggesting increased susceptibility to clinical disease. A small number of symptomatic patients appear to have significant residual CPT II activity (42-60%) The synergistic interaction of partial deficiencies of CPT II, muscle adenosine monophosphate deaminase and possibly other enzymes of muscle energy metabolism in the aetiology of episodic myopathy deserves wider consideration.
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