ReviewInternational journal of molecular sciences2017
Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.
Review in International journal of molecular sciences, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 36 citations in OpenAlex.
- Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders.Journal of inherited metabolic disease · 2025Article
- Carnitine Palmitoyltransferase II (CPT2) Deficiency: An Overlooked and Elusive Cause of Acute Kidney Injury.Cureus · 2024Article
- Integrated 4D Analysis of Intramuscular Fat Deposition: Quantitative Proteomic and Transcriptomic Studies in Wannanhua Pig Longissimus Dorsi Muscle.Animals : an open access journal from MDPI · 2024Article
- Article
- Mitochondrial carnitine palmitoyltransferase-II dysfunction: A possible novel mechanism for nonalcoholic fatty liver disease in hepatocarcinogenesis.World journal of gastroenterology · 2023Review
- From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency.Archive of clinical cases · 2023Article
- Article
- The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis.Orphanet journal of rare diseases · 2021Article
- Mitochondrial Homeostasis Mediates Lipotoxicity in the Failing Myocardium.International journal of molecular sciences · 2021Review
- Nutrition and Exercise in a Case of Carnitine Palmitoyl-Transferase II Deficiency.Frontiers in physiology · 2021Article
- The role and therapeutic implication of CPTs in fatty acid oxidation and cancers progression.American journal of cancer research · 2021Review
- Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.Molecules (Basel, Switzerland) · 2020Review
- Severe rhabdomyolysis in homozygote carnitine palmitoyltransferase II deficiency.EXCLI journal · 2020Article
- Physiological aspects of muscular adaptations to training translated to neuromuscular diseases.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2019Article
- Repeated and progressive rhabdomyolysis due to a novel carnitine palmitoyltransferase II gene variant in an adult male: A case report.Medicine · 2019Article
- Unrecognized High Occurrence of Genetically Confirmed Hereditary Carnitine Palmitoyltransferase II Deficiency in an Austrian Family Points to the Ongoing Underdiagnosis of the Disease.Frontiers in genetics · 2019Article
- Metabolic lipid muscle disorders: biomarkers and treatment.Therapeutic advances in neurological disorders · 2019Review
- Acute Respiratory Infection Unveiling CPT II Deficiency.International journal of molecular sciences · 2018Article
- Clinical and biochemical footprints of inherited metabolic disorders: X. Metabolic myopathies.Molecular genetics and metabolismReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
CPT (carnitine palmitoyltransferase) II muscle deficiency is the most common form of muscle fatty acid metabolism disorders. In contrast to carnitine deficiency, it is clinically characterized by attacks of myalgia and rhabdomyolysis without persistent muscle weakness and lipid accumulation in muscle fibers. The biochemical consequences of the disease-causing mutations are still discussed controversially. CPT activity in muscles of patients with CPT II deficiency ranged from not detectable to reduced to normal. Based on the observation that in patients, total CPT is completely inhibited by malony-CoA, a deficiency of malonyl-CoA-insensitive CPT II has been suggested. In contrast, it has also been shown that in muscle CPT II deficiency, CPT II protein is present in normal concentrations with normal enzymatic activity. However, CPT II in patients is abnormally sensitive to inhibition by malonyl-CoA, Triton X-100 and fatty acid metabolites. A recent study on human recombinant CPT II enzymes (His₆-
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.