The present case illustrates the need for evaluation of carnitine status in fetuses and neonates presenting with hydrops associated with cardiac failure. [ncbi.nlm.nih.gov]

• Swelling

  The major finding in the brain was swelling of astrocyte cytoplasm. Expanded mitochondria in nerve cells and myelin sheath splitting in the white matter, which have been reported to be specific to RS, were not observed. [ncbi.nlm.nih.gov]

  This can lead to symptoms such as swelling and shortness of breath. Heart problems respond well to treatment with L-carnitine. Your doctor may want to check your heart for signs of weakness over time. Liver problems. [fairview.org]

  This can lead to symptoms such as swelling and shortness of breath. Untreated heart weakness may lead to death early in life. Fortunately, heart problems respond very well to treatment with L-carnitine. [saintlukeshealthsystem.org]

• Infertility

  Treating male infertility. Taking acetyl-L-carnitine by mouth, along with L-carnitine, seems to increase sperm motion and may increase the rate of pregnancy in infertile men. [webmd.com]

  Previous Next Download PDF of This Page (Size: 100K) ↧ ALL is predisposed to by Blooms syndrome Fanconi's syndrome Ataxic telengectasia Turners syndrome Diamond blackfan syndrome Klinefelters syndrome is associated with XXY Male phenotype Infertility [examrace.com]

  Effects of L-carnitine on sperm motility and number in infertile men [abstract]. Fértil Steril. 1998;70(3 suppl 1):S12. Vicari E. [cancercarewny.com]

  Although animal studies show no evidence of infertility or fetal harm due to carnitine, no valid data is available for human pregnancies. It is not known whether it is excreted in the mother’s milk. [epilepsyontario.org]

• Sepsis

  Her hospital course was complicated by sepsis from a peripherally inserted central catheter (PICC). She was discharged on a beta-blocker and carnitine supplementation. One month later her cardiac function had normalized. [ncbi.nlm.nih.gov]

  […] carnitine due to diarrhea, diuresis, or hemodialysis A hereditary disorder in which carnitine leaks from renal tubules Increased requirements for carnitine when ketosis is present or demand for fat oxidation is high (eg, during a critical illness such as sepsis [msdmanuals.com]

  His blood culture was sterile and the screening tests for the presence of sepsis did not reveal any abnormality. [neurologyindia.com]

  […] hemodialysis · A hereditary disorder in which carnitine leaks from renal tubules (Primary carnitine deficiency) · Increased requirements for carnitine when ketosis is present or demand for fat oxidation is high (eg, during a critical illness such as sepsis [namrata.co]

• Chronic Fatigue Syndrome

  Long-chain acylcarnitine deficiency in patients with chronic fatigue syndrome. Potential involvement of altered carnitine palmitoyltransferase-I activity. Reuter SE, Evans AM. [innovativemen.com]

  Am J Clin Nutr 1989; 50:301-6. [2] Grau JM, Casademont J, et al: Chronic fatigue syndrome: studies on skeletal muscle. [kuninhealth.com]

  Chronic fatigue syndrome. Early research suggests that taking L-carnitine for 2 months can improve symptoms of fatigue. Lung disease (chronic obstructive pulmonary disease). [rxlist.com]

  Amantadine and L-carnitine treatment of chronic fatigue syndrome. Neuropsychobiology. 1997;35:16 - 23. Benvenga S, Ruggeri RM, Russo A, et al. [cancercarewny.com]

• Surgical Procedure

  If an individual with CDSP is hospitalized for hypoglycemia, or needs to fast because of a medical or surgical procedure, treatment with intravenous dextrose is recommended. [ojrd.biomedcentral.com]

• Vomiting

  Abstract An infant with delayed development and peripheral myopathy, nourished on a soy-based liquid diet deficient in carnitine, had gastrointestinal dysmotility manifested by postprandial vomiting, oral drooling, delayed gastric emptying and infrequent [ncbi.nlm.nih.gov]

  There is a short chain enzyme as well, and that's not affected as far as I know. 5+ Year Member Joined: Aug 20, 2012 Messages: 802 Likes Received: 218 Status: Fellow [Any Field] MCAD deficiency presents with fasting hypoglycemia and vomiting. [forums.studentdoctor.net]

  In more severe cases, in which other tissues are affected, symptoms can include low blood sugar, fatigue, vomiting, abdominal pain, growth retardation, low weight, enlarged liver and episodes of brain function abnormalities. [mda.org]

  MCADD presents in early childhood with hypoketotic hypoglycemia and liver dysfunction, often preceded by extended periods of fasting or an infection with vomiting. [en.wikipedia.org]

• Diarrhea

  […] carnitine due to enzyme deficiencies (eg, carnitine palmitoyltransferase deficiency, methylmalonicaciduria, propionicacidemia, isovalericacidemia) Decreased endogenous synthesis of carnitine due to a severe liver disorder Excess loss of carnitine due to diarrhea [msdmanuals.com]

  Other signs of carnitine deficiency include muscle fatigue and weakness, abdominal cramps from decreased gastrointestinal motility, diarrhea, anemia and pre-mature aging. [3fatchicks.com]

  […] hypoketotic hypoglycemic encephalopathy, often associated with hepatomegaly, elevated liver transaminases, hyperammonemia, cardiomyopathy, pericardial effusion, muscle weakness, gastrointestinal dysmotility, with recurrent episodes of abdominal pain and diarrhea [neurologyindia.com]

  Excessive loss of carnitine may also result from diarrhea and diuresis or conditions that require hemodialysis. Symptoms of Low Carnitine The exact symptoms of carnitine deficiency and the age at which they appear depend mostly on the initial cause. [livestrong.com]

• Nausea

  Carnitor ® (levocarnitine) Injection Gastrointestinal Reactions: Transient nausea and vomiting have been observed. Less frequent adverse reactions are body odor, nausea, and gastritis. [carnitor.com]

  […] believe they said there were clear droplets viewed on biopsy, and somehow I had thought they were referring to glycogen that is non-stained when used with PAS). 7) Know that carnitine acyl-transferase-I is in the cytosol; CAS-II is in the mitochondria. 8) Nausea [forums.studentdoctor.net]

  […] bodies with the water resulting in fluid loss Diabetic patients are greatly affected by ketoacidosis because insulin hormone is the main regulator of the process Symptoms of ketoacidosis include frequent urination, breath smelling like fruits or acetone, nausea [byjus.com]

  […] diet (where it may promote ketosis) who have low plasma levels of carnitine people on dialysis -prescribed treating rare diseases involving problems of the transport of carnitine into the mitochondria Side Effects Adverse effects may include: transient nausea [epilepsyontario.org]

• Steatorrhea

  A male infant who had been born at 24 weeks' gestation with birth weight 799 g, was fed with an MCT formula containing 76.8% of all kinds of lipids, because of his steatorrhea after the 30th day. [ncbi.nlm.nih.gov]

• Cardiomegaly

  Clinical findings Myoglobinuria, renal failure, hypoglycaemia, hypotonia, hepatomegaly, hepatic coma, congestive heart failure, neurologic changes (progressive myasthenia, encephalopathy), lethargy, coma, death, cardiomegaly, cardiac arrest and impaired [medical-dictionary.thefreedictionary.com]

  Keywords: Cardiomegaly, carnitine palmitoyltransferase II deficiency, hyperkalemia How to cite this article: Casadei A, Biasini A, Cuna CD, Mancini L, Sensi A. Neonatal arrhythmias due to deficiency of carnitine palmitoyltransferase II. [jcnonweb.com]

  Cardiomegaly and dilatation in main the pulmonary artery was detected in the MR angiogram. Plasma carnitine and acylcarnitine levels were found to be significantly low. [ncbi.nlm.nih.gov]

  He initially presented at 3 months of age with hypoketotic hypoglycemic encephalopathy, hepatomegaly, and cardiomegaly, and was later documented to have less than 5% of plasma, muscle, and liver carnitine concentrations ( Chapoy et al 1980 ). [medlink.com]

  Abstract A 3 1/2-year-old boy presented at three months of age with an acute episode of lethargy, somnolence, hypoglycemia, hepatomegaly, and cardiomegaly, which responded poorly to restoration of the blood sugar level to normal. [nejm.org]

• Myopathy

  The differential diagnosis of a late-onset myopathy should include lipid myopathies, some of which can be treated successfully. [ncbi.nlm.nih.gov]

  So far 18 cases of carnitine deficiency myopathy have been recognized, generally occurring as progressive or relapsing myopathy. [mayoclinic.pure.elsevier.com]

• Hunger

  I am particularly intolerant to hunger, and so I cannot overly emphasize how small of a deficit I will allow for. The nice thing about that though is that the hunger is far more pleasant in the absence of carbs. [healthy-profits.net]

  Spicy food also helps to control your hunger and maintain a consumption schedule. These energy enhancers balance your diet and help in weight loss. [thehealthsupplements.com]

• Kidney Failure

  Secondary carnitine deficiencies may occur due to certain disorders (such as chronic renal failure- or kidney failure as it is known) or under particular conditions (e.g., use of certain antibiotics) that reduce carnitine absorption or increase its elimination [leadiant.com]

  This protein can also damage the kidneys, in some cases leading to life-threatening kidney failure. Episodes of myalgia and rhabdomyolysis may be triggered by exercise, stress, exposure to extreme temperatures, infections, or fasting. [ghr.nlm.nih.gov]

  L-Carnitine is given to patients receiving dialysis for kidney failure and is considered very safe.”L-Carnitine (LC) administration has been recommended for specific indications in dialysis patients, including epoetin-resistant anemia, intradialytic hypotension [innovativemen.com]

  failure patients in intervention studies. [dovepress.com]

• Renal Insufficiency

  In patients with LPI, hypocarnitinemia was strongly associated with female sex, renal insufficiency, and the use of ammonia-scavenging drugs. [ncbi.nlm.nih.gov]

  Precautions General The safety and efficacy of oral levocarnitine has not been evaluated in patients with renal insufficiency. [carnitor.com]

  He did not have any history of rhabdomyolysis, cardiac disease, liver disease, or renal insufficiency that would have suggested an underlying genetic defect in fatty acid oxidation. [jmedicalcasereports.com]

  Rodriguez-Segade S, Alonso de la Peña C, Paz M, Novoa D, Romero R, et al. (1986) Carnitine concentrations in dialysed and undialysed patients with chronic renal insufficiency. Ann Clin Biochem 23: 671-675. [omicsonline.org]

• Encephalopathy

  Carnitine deficiency due to cefditoren pivoxil treatment may present as metabolic encephalopathy in adults. [ncbi.nlm.nih.gov]

  This formerly lethal disease of childhood is characterized by progressive infantile-onset hypertrophic or dilatative cardiomyopathy, weakness, recurrent hypoglycemic hypoketotic encephalopathy, and failure to thrive. [medlink.com]

• Confusion

  Abstract A 48-year-old male patient had two episodes of fever, headache, confusion and seizures following an upper respiratory tract infection. Electroencephalography (EEG) revealed diffuse slowing of background activity. [ncbi.nlm.nih.gov]

  Carnitine deficiency may cause muscle necrosis, myoglobinuria, lipid-storage myopathy, hypoglycemia, fatty liver, and hyperammonemia with muscle aches, fatigue, confusion, and cardiomyopathy. [msdmanuals.com]

  The glucometer reading was 6.6mmol/L at the time when he was first assessed for his confusion (hemoglobin A1C unknown). [jmedicalcasereports.com]

  […] estimated incidence is one per 40,000 births. 1,3 The signs and symptoms of carnitine deficiency typically appear during infancy or early childhood and can include encephalopathy (severe brain dysfunction), cardiomyopathy (a weakened and enlarged heart), confusion [leadiant.com]

• Lethargy

  Clinical findings Myoglobinuria, renal failure, hypoglycaemia, hypotonia, hepatomegaly, hepatic coma, congestive heart failure, neurologic changes (progressive myasthenia, encephalopathy), lethargy, coma, death, cardiomegaly, cardiac arrest and impaired [medical-dictionary.thefreedictionary.com]

  During a crisis, a patient may manifest with lethargy, emesis, respiratory arrest, seizures, hepatomegaly and rapid progression to cardiac arrest unless emergency treatment is implemented. [orpha.net]

  As a result, these fats are not converted to energy, which can lead to the characteristic signs and symptoms of this disorder such as lethargy and hypoglycemia. [ghr.nlm.nih.gov]

  Abstract A 3 1/2-year-old boy presented at three months of age with an acute episode of lethargy, somnolence, hypoglycemia, hepatomegaly, and cardiomegaly, which responded poorly to restoration of the blood sugar level to normal. [nejm.org]

The question remains of whether the male predominance is due to sex-related differences in exercise activities, an X-chromosomal modifier gene, or hormonal factors such as estrogen that seem to be a regulator of CPT. 17, 18 Diagnostic workup of exercise-induced [jamanetwork.com]

In the thyroid gland, I-concentration is more progressive, also in the reservoir (from 1% after 30 minutes, to 5.8% after 48 hours, of the total injected dose.[18] The diagnostic workup of a suspected iodine deficiency includes signs and symptoms as well [en.wikipedia.org]

Workup of such patients includes measuring plasma amino acids and looking for succinylacetone on urine organic acid analysis. [genico.ch]

Carnitine treatment of inborn errors of metabolism is a safe and integral part of the treatment regime for these disorders. [ncbi.nlm.nih.gov]

The prognosis of PCD patients is good after early treatment. [ncbi.nlm.nih.gov]

Prognosis The prognosis is excellent in diagnosed patients who avoid fasting and who are managed appropriately during an intercurrent illness/ metabolic crisis. The documents contained in this web site are presented for information purposes only. [orpha.net]

Abstract Dilated cardiomyopathy is characterized by a dilated and poorly functioning left ventricle and can result from several different etiologies including ischemic, infectious, metabolic, toxins, autoimmune processes or nutritional deficiencies. [ncbi.nlm.nih.gov]

In all 21 subjects with several different etiologies for the Fanconi syndrome, the mean fractional excretion of free carnitine (33%) as well as acyl carnitine (26%) greatly exceeded normal values (3 and 5%, respectively). [jci.org]

To compare symptom outcomes before and after supplementation, patients completed validated measures of fatigue (Brief Fatigue Inventory [BFI]), depressed mood (Center for Epidemiologic Studies Depression Scale [CES-D]), quality of sleep (Epworth Sleeplessness [ncbi.nlm.nih.gov]

Summary Epidemiology The estimated birth prevalence of MCADD is thought to range from 1/4,900 to 1/27,000 in Caucasian populations and is highest in individuals of Northern European descent. The worldwide birth prevalence is 1/14,600. [orpha.net]

The pathophysiology of EED remains poorly understood. METHODS: We measured serum metabolites using liquid chromatography-tandem mass spectrometry in 400 children, aged 12-59months, from rural Malawi. [ncbi.nlm.nih.gov]

In the absence of such recommendations, a rational approach must be based on an understanding of the normal physiology of fasting in children of different ages and the pathophysiology associated with the child's particular disorder. [doi.org]

Internal Medicine (202) Pathology and Forensic Medicine (155) Paediatrics, Neonatology (122) Physiology and Pathophysiology (97) Medical Chemistry and Biochemistry (78) Infectology (77) Gastroenterology and Hepatology (66) Microbiology (62) Surgery, Traumatology [portal.mefanet.cz]

They also plan to assess whether carnitine supplements can prevent or reverse symptoms of autism in people without TMLHE deficiency. [sfari.org]