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	Carnitine-acylcarnitine translocase deficiency - Wikipedia, the free encyclopedia
		Carnitine-acylcarnitine translocase deficiency is a rare condition that prevents the body from converting long-chain fatty acids into energy, particularly during periods without food.
		Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy.
		Free long-chain fatty acids or those that are joined with carnitine can affect the electrical properties of cardiac cells causing an irregular heart beat (arrhythmia, which can lead to cardiac arrest).
	en.wikipedia.org /wiki/Carnitine-acylcarnitine_translocase_deficiency (325 words)

	A Rare Case Presentation of Primary Carnitine Deficiency (Site not responding. Last check: 2007-11-01)
		Carnitine performs two very important functions in fat metabolism: 1) it is a carrier molecule that transports long chain fatty acids into cellular mitochondria (the cells' furnace) and 2) the shuttling outside the cell 'acyl' groups, chemicals that are toxic to the cell, where they can be safely excreted in the urine.
		Carnitine deficiencies are generally classified as either "primary' or "secondary." Primary carnitine deficiency is a genetically inherited disease that interferes with the uptake of carnitine into the cells and tissues.
		The presentation of this child was not typical in the sense that primary carnitine deficiency is not usually associated with the presence of dicarboxylic acids in the urine.
	www.fodsupport.org /rare_case.htm (950 words)

	Primary carnitine deficiency - Genetics Home Reference (Site not responding. Last check: 2007-11-01)
		Primary carnitine deficiency is a condition that prevents the body from using fats for energy, particularly during periods without food (fasting).
		Acute illness due to primary carnitine deficiency can be triggered by periods of fasting or illnesses such as viral infections, particularly when eating is reduced.
		Mutations in the SLC22A5 gene cause primary carnitine deficiency.
	ghr.nlm.nih.gov /condition=primarycarnitinedeficiency (655 words)

	Linus Pauling Institute at Oregon State University
		Primary systemic carnitine deficiency is a genetic disorder that is usually detected in infancy or early childhood.
		Primary myopathic carnitine deficiency is also a genetic disorder in which carnitine deficiency is limited to skeletal and cardiac muscle.
		Carnitine depletion may lead to a number of conditions observed in dialysis patients, including muscle weakness and fatigue, plasma lipid abnormalities, and refractory anemia.
	lpi.oregonstate.edu /infocenter/othernuts/carnitine (3741 words)

	Carnitine
		The major biochemical function of carnitine is to act as a trans-membrane carrier of long-chain fatty acids to the interior of mitochondria.
		The critical role of acetyl-carnitine for the metabolism and function of the peripheral nerves supports the view that the acetyl-carnitine deficiency found in these subjects may contribute to the neurotoxicity of ddl, ddC and d4T, even though the interference with mitochondrial DNA synthesis is regarded as the main cause of their toxicity.
		Primary carnitine deficiency is a treatable disorder and therefore skeletal muscle biopsy and blood chemistry should be performed in all children with undiagnosed cardiomyopathy.
	home.caregroup.org /clinical/altmed/interactions/Nutrients/Carnitine.htm (5480 words)

	eMedicine - Carnitine Deficiency : Article by Fernando Scaglia, MD (Site not responding. Last check: 2007-11-01)
		Carnitine deficiency is a metabolic state in which carnitine concentrations in plasma and tissues are less than the levels required for normal function of the organism.
		In secondary carnitine deficiency, which is caused by other metabolic disorders (eg, fatty acid oxidation disorders, organic acidemias), carnitine depletion may be secondary to the formation of acylcarnitine adducts and the inhibition of carnitine transport in renal cells by acylcarnitines.
		Carnitine deficiency may present in children being treated with valproic acid and may be associated with fulminant liver failure and presentation similar to that in Reye syndrome.
	www.emedicine.com /ped/topic321.htm (6247 words)

	Carnitine: The Science Behind a Conditionally Essential Nutrient - Conference Summary (Site not responding. Last check: 2007-11-01)
		Carnitine is termed a conditionally essential nutrient, as under certain conditions its requirements may exceed the individual's capacity to synthesize it.
		Carnitine is also available over-the-counter as a dietary supplement, as an aid to weight loss, to improve exercise performance, and to enhance a sense of well-being.
		Carnitine is studied extensively in part because of the important role it plays in fatty acid oxidation and energy production, and because it is a well-tolerated and generally safe therapeutic agent.
	ods.od.nih.gov /News/Carnitine_Conference_Summary.aspx (3715 words)

	Carnitine Deficiency Pediatric Oncall
		Thus, she was diagnosed as carnitine deficiency and treated with ionotropes, vasodilators and carnitine (100mg/kg/day).
		Primary carnitine deficiency (Plasma Membrane Carnitine Transport Defect) is the only genetic defect in which carnitine deficiency is the cause, rather than the consequence of impaired fatty acid oxidation.
		It is an autosomal recessive disorder and heterozygote parents have plasma levels of carnitine approximately 50% of normal.
	www.pediatriconcall.com /fordoctor/casereports/carnitine.asp (544 words)

	Carnitine's Growing Role in Health and Disease Prevention Is Topic for NIH Conference
		Secondary carnitine deficiency is a rare metabolic disorder usually diagnosed at birth.
		However, primary carnitine deficiency, which is due to decreased synthesis of carnitine in the body or altered transport of carnitine across the cellular membrane, can occur in people of all ages.
		It was approved in 1985 for primary and secondary carnitine deficiency, and in 1999, received supplemental approval for carnitine deficiencies associated with late-stage renal disease.
	www.prnewswire.com /cgi-bin/stories.pl?ACCT=104&STORY=/www/story/03-25-2004/0002134962&EDATE= (454 words)

	MDA / Quest 6-1 / Carnitine and coQ10
		Carnitine is a small molecule that works in the "shipping and receiving department" of the mitochondrion, where traffic going in and out of the matrix (inner compartment of the mitochondrion) is sorted (see illustration).
		Primary carnitine deficiency is classified as "systemic carnitine deficiency," which involves many organs including the heart and brain, or "muscle carnitine deficiency," which is restricted to voluntary muscle.
		Carnitine deficiency can occur as a secondary effect from a variety of mitochondrial disorders, in particular those involving the preliminary processing of fatty acids, such as medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, and those affecting the electron transport chain, such as cytochrome c oxidase deficiency.
	www.mdausa.org /publications/Quest/q61coq10.html (2851 words)

	Carnitine - Wikipedia, the free encyclopedia
		Vitamin C (ascorbic acid) is essential to the synthesis of carnitine.
		It has been speculated that during growth or pregnancy the requirement of carnitine could exceed its natural production.
		It is important to note that carnitine acyltransferase I undergoes allosteric inhibition as a result of malonyl CoA, an intermediate in fatty acid biosynthesis, in order to prevent futile cycling between beta-oxidation and fatty acid synthesis.
	en.wikipedia.org /wiki/Carnitine (321 words)

	Cartina (Site not responding. Last check: 2007-11-01)
		Primary carnitine deficiency is a genetic disease, which shows no apparent symptoms in either the parent or the infant.
		Carnitine is essential to human for the transportation of lipid which is required for generation of energy in cells.
		Primary Carnitine Deficiency was diagnosed as the cause for the sudden death in both children.
	www.cuhk.edu.hk /ipro/pressrelease/990624.htm (452 words)

	L-Carnitine (Site not responding. Last check: 2007-11-01)
		Primary carnitine deficiency, although rare, is characterized by low plasma, red blood cell, and tissue levels of carnitine, and generally presents with symptoms such as muscle fatigue, cramps, and myoglobinemia following exercise.
		Because of carnitine's role in fatty acid metabolism, elevated triglycerides as a lab finding might, among a variety of possibilities, be indicative of a relative deficiency of carnitine.
		Ino et al have suggested "the determination of plasma carnitine concentrations and fatty acid metabolism by-products should be performed in all patients with cardiomyopathy of unknown etiology because carnitine supplementation may lead to improvement." This statement was a result of their findings in children with hypertrophic and dilated cardiomyopathy associated with abnormal carnitine metabolism.
	www.thorne.com /altmedrev/fulltext/carn3-5.html (6798 words)

	Rare Gene Mutation May Be Linked To Sids
		The mutation causes a deficiency in carnitine, a fatty acid-transporting substance that is key in cellular processes that generate energy.
		The second child in the same family, a boy, died at the age of 6 months and he was diagnosed with primary carnitine deficiency, according to Professor Nils Magnus Hjelm, the chairman of chemical pathology at Chinese University.
		Primary carnitine deficiency is a genetic disease found in only 40 families worldwide, and the researchers identified a gene mutation, OCTN2, which results in a defective carnitine transporter molecule.
	www.personalmd.com /news/a1999070110.shtml (350 words)

	L-carnitine & Liver Irritation from Depakote ER
		Carnitine is an ammo acid derivative found in high energy demanding tissues (skeletal muscles, myocardium, the liver and the suprarenal glands).
		Carnitine is indispensable for beta-oxidation of long-chain fatty acids in the mitochondria but also regulates CoA concentration and removal of the produced acyl groups.
		Secondary carnitine deficiency is associated with several inborn errors of metabolism and acquired medical or iatrogenic conditions, for example in patients under valproate and zidovuline treatment.
	www.bipolarworld.net /Phelps/ph_2004/ph1180.htm (846 words)

	Order CARNITOR @ Rx Care Canada
		It has not been possible to determine which symptoms are due to carnitine deficiency and which are due to the underlying organic acidemia, as symptoms of both abnormalities may be expected to improve with levocarnitine.
		Carnitine deficiency is defined biochemically as abnormally low plasma levels of free carnitine, less than 20 µmol/L at 1 week post term and may be associated with low tissue and/or urine levels.
		A diagnosis of primary carnitine deficiency requires that serum, red cell and/or tissue carnitine levels be low and that the patient does not have a primary defect in fatty acid or organic acid oxidation (see Pharmacology).
	canadadrugs.rxcarecanada.com /CARNITOR.asp?prodid=CARNITOR (2147 words)

	Carnitor Injection for Dialysis Related Carnitine Deficiency
		Primary systemic carnitine deficiency is characterized by low concentrations of levocarnitine in plasma, RBC, and/or tissues.
		Carnitine deficiency is defined biochemically as abnormally low plasma concentrations of free carnitine, less than 20 µmol/L at one week post term and may be associated with low tissue and/or urine concentrations.
		A diagnosis of primary carnitine deficiency requires that serum, red cell and/or tissue carnitine levels be low and that the patient does not have a primary defect in fatty acid or organic acid oxidation (see Clinical Pharmacology).
	www.carnitor.com /pi_tabs_oral_m.html (1907 words)

	K/DOQI Update 2000
		Cardiovascular disease accounts for approximately 50% of deaths in the ESRD population, and complications of left ventricular dysfunction and left ventricular hypertrophy lead to considerable morbidity.
		Carnitine is abundant in skeletal muscle, and muscle carnitine content has been reported to decrease with dialysis vintage.
		It has been proposed that carnitine deficiency might reduce erythrocyte half-life, by adversely influencing the integrity of the erythrocyte membrane.
	www.kidney.org /professionals/kdoqi/guidelines_updates/nut_appx10a.html (2693 words)

	L-Carnitine
		Some of these are genetic defects of metabolism such as methylmalonic aciduria, cytochrome C oxidase deficiency, fatty acyl-coenzyme A dehydrogenase deficiency, including long-chain and medium-chain deficiency, isovaleric acidemia, glutaric aciduria and propionic acidemia.
		Secondary L-carnitine deficiency may also be found secondary to other conditions such as chronic renal failure treated by hemodialysis, cirrhosis with cachexia, chronic severe myopathies, myxedema, hypopituitarism, adrenal insufficiency, hyperammonemia associated with valproic acid therapy, valproate-induced Reye's syndrome, advanced AIDS and pregnancy.
		Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter.
	www.pdrhealth.com /drug_info/nmdrugprofiles/nutsupdrugs/lca_0060.shtml (2633 words)

	Specialty Laboratories ::: we help doctors help patients
		Robert Wassman, M.D. Carnitine (3-hydroxy-4-N-trimethylaminobutyric acid) deficiency results in impaired oxidation of fatty acids in the mitochondria due to its pivotal role as a transport substrate.
		In secondary carnitine deficiency states, the metabolic picture observed with standard chemistry and GC-MS can be confounded by the combined effects of the primary defect and the deficiency, but generally hypoketotic hypoglycemia with low total (10-50% of normal) and free carnitine, and elevated acylcarnitines in plasma and urine.
		Effect of carnitine administration on glycine metabolism in patients with isovleric acidemia: significance of acetylcarnitine determination to estimate the proper carnitine dose.
	www.specialtylabs.com /books/display.asp?id=917 (233 words)

	Medium Chain Acyl CoA Dehydrogenase Deficiency
		Carnitine deficiency may cause the accumulation of acidic wastes in the blood (organic acidemia).
		Primary Carnitine Deficiency Syndromes are a rare group of disorders characterized by abnormally low levels of a substance (carnitine) that carries fatty acids to the energy centers of muscles (mitochondria).
		Carnitine deficiency may cause an abnormal accumulation of acidic wastes in the blood (organic acidemia).
	hw.healthdialog.com /kbase/nord/nord585.htm (3112 words)

	Organic Cation/Carnitine Transporter, OCTN2, Is Differentially Expressed in the Adult Rat Epididymis -- ...
		Carnitine and glycerylphosphorylcholine in the reproductive tract of the male rat.
		Carnitine transport into the perfused epididymis of the rat: regional differences, stereospecificity, stimulation by choline, and the effect of other luminal factors.
		Carnitine in the male reproductive tract and its relation to the metabolism of the epididymis and spermatozoa.
	www.biolreprod.org /cgi/content/full/67/1/314 (3285 words)

	Carnitine Deficiency Syndromes
		It is possible that the main title of the report Carnitine Deficiency Syndromes is not the name you expected.
		Carnitine Deficiency Syndrome is a rare metabolic disorder that may be inherited in some cases, or occur as a result of other metabolic disorders.
		Carnitine functions in the body as a carrier of fatty acids to the energy centers in muscles (mitochondria).
	www.webmd.com /hw/health_guide_atoz/nord60.asp (394 words)

	Cecil Textbook of Medicine : />
		Serum long-chain fatty acids, which are the primary lipid fuel for muscle metabolism, are transported into the mitochondria as carnitine esters and are metabolized via β-oxidation.
		Carnitine palmitoyl transferase (CPT) I converts cytoplasmic acyl-coenzyme A (CoA) to acylcarnitine, which is then transported into the mitochondria by carnitine acyl-transferase in exchange for carnitine.
		A lipid storage myopathy can be caused by primary carnitine deficiency or by another defect of fatty acid oxidation with secondary carnitine deficiency.
	www.merckmedicus.com /ppdocs/us/common/cecils/chapters/463_029.htm (188 words)

	Carnitine transporter deficiency - Carnitine transporter deficiency
		Primary carnitine deficiency is a condition that prevents the body from using fats for energy, particularly during periods without food.
		The current understanding of primary carnitine deficiency has been greatly influenced by the research of Doctors Susan C. Winter and Neil Buist.
		A disease is any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person.
	www.medicalgeo.com /Med-Diseases-C---Ch/Carnitine-transporter-deficiency.html (447 words)

	Carnitine Deficiency Syndromes
		In some cases of this disorder, total carnitine levels may be normal but are nonetheless insufficient to meet metabolic needs because of the presence of another associated disorder.
		Primary Carnitine Deficiency Syndrome is thought to be inherited as an autosomal recessive genetic trait.
		Primary Carnitine Deficiency Syndrome is a rare disorder that affects males and females in equal numbers.
	hw.healthdialog.com /kbase/nord/nord60.htm (1291 words)

	Electrospray Tandem Mass Spectrometry for Analysis of Acylcarnitines in Dried Postmortem Blood Specimens Collected at ...
		that this infant was a compound heterozygote for MCAD deficiency.
		to an uptake disorder, as primary carnitine deficiency, or as
		Carnitine in inborn errors of metabolism, from pathophysiology to applications and treatment [partial requirement for degree of Geaggregeerde vor het Hoger Onderwijs] 1994:91 Duke University Medical Center Durham, NC.
	www.clinchem.org /cgi/content/full/47/7/1166 (7528 words)

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