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41 relations: Cardiac arrest, Cardiomegaly, Cardiomyopathy, Carnitine, Carnitine O-palmitoyltransferase, Carnitine palmitoyltransferase I deficiency, Carnitine palmitoyltransferase II, Catabolism, Creatine kinase, Diazepam, Dominance (genetics), Epileptic seizure, Exon, Fasciculation, Fatty acid, Fibroblast, Gene, General anaesthesia, Heart arrhythmia, Hepatomegaly, Hyperammonemia, Hypoglycemia, Ibuprofen, Infant, Kidney failure, Lymphocyte, Medium-chain triglyceride, Micelle, Mitochondrion, Myalgia, Myoglobin, Myoglobinuria, Myokymia, Myopathy, Rhabdomyolysis, Skeletal muscle, Sudden infant death syndrome, Systemic primary carnitine deficiency, Tandem mass spectrometry, Triheptanoin, Valproate.
Cardiac arrest
Cardiac arrest is a sudden loss of blood flow resulting from the failure of the heart to effectively pump.
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Cardiomegaly
Cardiomegaly is a medical condition in which the heart is enlarged.
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Cardiomyopathy
Cardiomyopathy is a group of diseases that affect the heart muscle.
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Carnitine
Carnitine (β-hydroxy-γ-N-trimethylaminobutyric acid, 3-hydroxy-4-N,N,N- trimethylaminobutyrate) is a quaternary ammonium compound involved in metabolism in most mammals, plants and some bacteria. Carnitine may exist in two isomers, labeled D-carnitine and L-carnitine, as they are optically active. At room temperature, pure carnitine is a white powder, and a water-soluble zwitterion with low toxicity. Carnitine only exists in animals as the L-enantiomer, and D-carnitine is toxic because it inhibits the activity of L-carnitine. Carnitine, derived from an amino acid, is found in nearly all organisms and animal tissue. Carnitine is the generic expression for a number of compounds that include L-carnitine, acetyl-L-carnitine, and propionyl-L-carnitine. It is most accumulated in cardiac and skeletal muscles as it accounts for 0.1% of its dry matter. It was first derived from meat extracts in 1905, therefore the name carnitine is derived from Latin "carnus" or flesh. The body synthesizes enough carnitine from lysine side chains to keep up with the needs of energy production in the body as carnitine acts as a transporter of long-chain fatty acids into the mitochondria to be oxidized and produce energy. Some individuals with genetic or medical disorders (like preterm infants) cannot make enough, so this makes carnitine a conditionally essential nutrient for them.
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Carnitine O-palmitoyltransferase
Carnitine O-palmitoyltransferase (also called carnitine palmitoyltransferase) is a mitochondrial transferase enzyme involved in the metabolism of palmitoylcarnitine into palmitoyl-CoA.
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Carnitine palmitoyltransferase I deficiency
Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food.
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Carnitine palmitoyltransferase II
Carnitine O-palmitoyltransferase 2, mitochondrial is an enzyme that in humans is encoded by the CPT2 gene.
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Catabolism
Catabolism (from Greek κάτω kato, "downward" and βάλλειν ballein, "to throw") is the set of metabolic pathways that breaks down molecules into smaller units that are either oxidized to release energy or used in other anabolic reactions.
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Creatine kinase
Creatine kinase (CK), also known as creatine phosphokinase (CPK) or phosphocreatine kinase, is an enzyme expressed by various tissues and cell types.
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Diazepam
Diazepam, first marketed as Valium, is a medicine of the benzodiazepine family that typically produces a calming effect.
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Dominance (genetics)
Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.
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Epileptic seizure
An epileptic seizure is a brief episode of signs or symptoms due to abnormally excessive or synchronous neuronal activity in the brain.
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Exon
An exon is any part of a gene that will encode a part of the final mature RNA produced by that gene after introns have been removed by RNA splicing.
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Fasciculation
A fasciculation, or muscle twitch, is a small, local, involuntary muscle contraction and relaxation which may be visible under the skin.
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Fatty acid
In chemistry, particularly in biochemistry, a fatty acid is a carboxylic acid with a long aliphatic chain, which is either saturated or unsaturated.
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Fibroblast
A fibroblast is a type of biological cell that synthesizes the extracellular matrix and collagen, the structural framework (stroma) for animal tissues, and plays a critical role in wound healing.
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Gene
In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.
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General anaesthesia
General anaesthesia or general anesthesia (see spelling differences) is a medically induced coma with loss of protective reflexes, resulting from the administration of one or more general anaesthetic agents.
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Heart arrhythmia
Heart arrhythmia (also known as arrhythmia, dysrhythmia, or irregular heartbeat) is a group of conditions in which the heartbeat is irregular, too fast, or too slow.
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Hepatomegaly
Hepatomegaly is the condition of having an enlarged liver.
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Hyperammonemia
Hyperammonemia (or hyperammonaemia) is a metabolic disturbance characterised by an excess of ammonia in the blood.
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Hypoglycemia
Hypoglycemia, also known as low blood sugar, is when blood sugar decreases to below normal levels.
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Ibuprofen
Ibuprofen is a medication in the nonsteroidal anti-inflammatory drug (NSAID) class that is used for treating pain, fever, and inflammation.
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Infant
An infant (from the Latin word infans, meaning "unable to speak" or "speechless") is the more formal or specialised synonym for "baby", the very young offspring of a human.
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Kidney failure
Kidney failure, also known as end-stage kidney disease, is a medical condition in which the kidneys no longer work.
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Lymphocyte
A lymphocyte is one of the subtypes of white blood cell in a vertebrate's immune system.
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Medium-chain triglyceride
Medium-chain triglycerides (MCTs) are triglycerides whose fatty acids have an aliphatic tail of 6–12 carbon atoms.
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Micelle
A micelle or micella (plural micelles or micellae, respectively) is an aggregate (or supramolecular assembly) of surfactant molecules dispersed in a liquid colloid.
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Mitochondrion
The mitochondrion (plural mitochondria) is a double-membrane-bound organelle found in most eukaryotic organisms.
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Myalgia
Myalgia, or muscle pain, is a symptom of many diseases and disorders.
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Myoglobin
Myoglobin (symbol Mb or MB) is an iron- and oxygen-binding protein found in the muscle tissue of vertebrates in general and in almost all mammals.
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Myoglobinuria
Myoglobinuria is the presence of myoglobin in the urine, usually associated with rhabdomyolysis or muscle destruction.
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Myokymia
Myokymia (from the Greek -mŷs – "muscle," + kŷm, -kŷmia – "something swollen" or -kŷmos – "wave"), french, tic facial, is an involuntary, spontaneous, localised quivering of a few muscles, or bundles within a muscle, but which are insufficient to move a joint.
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Myopathy
Myopathy is a disease of the muscle in which the muscle fibers do not function properly.
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Rhabdomyolysis
Rhabdomyolysis is a condition in which damaged skeletal muscle breaks down rapidly.
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Skeletal muscle
Skeletal muscle is one of three major muscle types, the others being cardiac muscle and smooth muscle.
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Sudden infant death syndrome
Sudden infant death syndrome (SIDS), also known as cot death or crib death, is the sudden unexplained death of a child less than one year of age.
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Systemic primary carnitine deficiency
Systemic primary carnitine deficiency (SPCD), also known as carnitine uptake defect, carnitine transporter deficiency (CTD) or systemic carnitine deficiency is an inborn error of fatty acid transport caused by a defect in the transporter responsible for moving carnitine across the plasma membrane.
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Tandem mass spectrometry
Tandem mass spectrometry, also known as MS/MS or MS2, involves multiple steps of mass spectrometry selection, with some form of fragmentation occurring in between the stages.
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Triheptanoin
Triheptanoin is a triglyceride that is composed of three seven-carbon fatty acids.
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Valproate
Valproate (VPA), and its valproic acid, sodium valproate, and valproate semisodium forms, are medications primarily used to treat epilepsy and bipolar disorder and to prevent migraine headaches.
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Redirects here:
CPT II deficiency, Carnitine Palmityl Transferase Deficiency, Carnitine palmitoyl transferase 2 deficiency, Carnitine palmitoyltransferase deficiency type II, Carnitine palmitoyltransferase ii deficiency, Carnitine palmityl transferase, Carnitine palmityl transferase deficiency type 2, Hereditary carnitine deficiency myopathy, Muscle form of carnitine palmitoyltransferase deficiency.
References
[1] https://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency
