Request PDF on ResearchGate | Identificación de mutaciones en el gen CPT2 en un caso con déficit muscular de carnitina palmitoiltransferasa II. Tratamento da deficiência da carnitina-palmitoil transferase II. Romanian Tratamiento del déficit de carnitina palmitoiltransferasa II. Swedish. CARNITINA. PALMITOILTRANSFERASA 1 CPT2 que generan deficiencias descritas en la literatura. a = Nucleótido 1: A del codón ATG; b. = Mutaciones.
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Summary and related texts. In two thirds of the patients the disease presents in the first or second decade. The lethal neonatal form includes symptoms of the infantile disease as well as dysmorphic features e. Forty-eight hours later he developed progressive increase of creatinine values to 5.
Clinical description The myopathic form is the least severe and is characterized by recurrent attacks of rhabdomyolysis, muscle pain and weakness triggered by prolonged physical exercise, fasting, viral illness or extremes in temperature. Carmen Bernis aY. Detailed information Professionals Clinical genetics review English He was 18 years old and had a history of febrile transferaza in the childhood and tonsillectomy.
File:Carnitine – Wikimedia Commons
Only comments written in English can be processed. A diagnosis of acute renal failure due to severe rhabdomyolysis of unknown origin was made and the patient was admitted to the palmitool.
Early management of shock and prophylaxis of acute renal failure transfwrasa traumatic rhabdomiolysis. SerLeu mutation, which impairs enzyme stability. A total of 6 sessions were required. The treatment is to avoid the factors that can trigger rhabdomyolysis, like prolonged fasting, to eating a low-fat high-carbohydrate diet, frequent meals and with excessive carbohydrates intake after exercise.
The differential diagnosis should include McArdle disease, Duchenne muscular dystrophy, cytochrome c oxidase deficiency see these termsdeficiebcia II deficiency, complex III deficiency and rhabdomyolysis due to excessive exercise, infections, autoimmune reactions or drug-related neuroleptic syndrome among others.
Transmission is autosomal recessive. You can change the settings or obtain more information by clicking here. Summary and related texts. In two thirds of the patients the disease presents in the first or second decade. Carnitine palmitoil tranferase deficiency in pregnancy, a case report. Si continua navegando, consideramos que acepta su uso. SRJ is a prestige metric based on the idea that not all citations are the same. We present a male, who developed severe habdomyolysis after an infectious episode leading to acute oliguric renal failure that required hemodialysis.
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To improve our services and products, we use “cookies” own or third parties authorized to show advertising related to client preferences through the analyses of navigation customer behavior. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 67 Orphan drug s 1. February Pages The severe infantile form is characterized by a severe fasting intolerance leading to metabolic disorders such as hypoketotic hypoglycemia and hepatic encephalopathy.
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two receding years. L-carnitine administration and anaplerotic diet therapy with triheptanoin have been suggested for treatment of the disease; however benefits have not been proven.
The documents contained in this web site are presented for information purposes only. If the disease-causing mutations are identified defifiencia an affected individual, early diagnosis by molecular genetic testing can be offered to at-risk relatives to reduce morbidity and mortality.
Deficiencia de carnitina palmitoiltransferasa tipo II
Only comments written in English can be processed. Posttraumatic, ischemic, toxic, infectious, endocrine and immunological etiologies were ruled out. Specialised Social Services Eurordis directory.
Metabolic myopathies are a small percentage of rhabdomyolysis causes. Manitol use in acute renal failure is controversial, but in case of rhabdomyolysis it appears to reduce interstitial edema and to uptake free radicals.
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Health care resources for this deficiencix Expert centres Diagnostic tests Patient organisations 67 Orphan drug s 1.
Myoglobinuria and carnitine palmitoil tranferase deficiency in father and son. J Am Coll Health