DEFICIENCIA DE CARNITINA PALMITOIL TRANSFERASA PDF

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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SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact.

About cases of the myopathic form have been reported in the literature, but this number may under-estimate the disease prevalence. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

Differential diagnosis The differential diagnosis for the myopathic form should include McArdle disease, Duchenne muscular dystrophy, and cytochrome c oxidase deficiency see these terms among others, and carnitine-acylcarnitine translocase deficiency CACT and very-long-chain acyl-CoA dehydrogenase deficiency see these terms for the infantile and neonatal forms Antenatal diagnosis Prenatal diagnosis is available based on a combination of enzymatic and molecular testing.

For all other comments, please send your remarks via transferssa us. However they are a preventable cause of acute renal failure, which very often goes unnoticed.

Deficiencia de carnitina palmitoiltransferasa tipo II

The neonatal form is almost always lethal during the first months of life. This work is licensed under a Creative Commons Attribution 4. Acute renal failure due to carnitine palmitoyl transferase deficiency. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. The differential diagnosis should include McArdle disease, Duchenne muscular dystrophy, cytochrome c oxidase deficiency see these termscomplex II deficiency, complex III deficiency and rhabdomyolysis due to excessive exercise, infections, autoimmune reactions or drug-related neuroleptic syndrome among others.

Early management of shock and prophylaxis of acute renal failure in traumatic rhabdomiolysis. Physical examination was unremarkable except for hyperemic pharynx and intense pain on muscle palpation. Subscribe to our Newsletter. February Pages Home Articles in press Archive. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

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He was 18 years old and had a history of febrile episodes in deficienciaa childhood and tonsillectomy. In the 9th day the patient recovered diuresis. 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. Transferaas comments transfreasa in English can be processed.

The familial study disclosed that one sister deficiencis also affected. 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.

CPT deficiency is the most ddficiencia metabolic myopathy.

Carnitine palmitoiltransferase deficiency in a collage athlete: The clinical picture consists of recurrent episodes of muscular weakness, myalgias, rhabdomyolysis or acute renal failure. It is governed by the peer review system and all original papers are subject to internal assessment and external reviews.

File:Carnitine structure.png

The scintigraphy showed abnormal distribution of radiotracer with intense deposits in the muscles of the thorax, abdomen and extremities fig. Renal ultrasound was normal. Detailed information Professionals Clinical genetics review English He was discharged with polyuria and decreasing creatinine.

SRJ is a prestige metric based on the idea that not all citations are the same. Only comments trasferasa to improve the quality and accuracy of information on the Orphanet website are accepted. More than CPT II cases have been described with the myopathic form being the most common myopathic form: Other search option s Alphabetical list.

Are you a health professional able to prescribe or dispense drugs? Posttraumatic, ischemic, toxic, transverasa, endocrine and immunological etiologies were ruled out. In two thirds defidiencia the patients the disease presents in the first or second decade. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 67 Orphan drug s 1. If the disease-causing mutations are identified in an affected individual, early diagnosis by molecular genetic testing can be offered to at-risk relatives to reduce morbidity and mortality.

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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. The severe infantile form is characterized by a severe fasting intolerance leading to metabolic disorders such as hypoketotic hypoglycemia and hepatic encephalopathy.

Carmen Bernis aY. Additional information Further information on this disease Classification s 3 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s 9. Previous article Next article. Other search option s Alphabetical list. Physical examination was unremarkable except for hyperemic pharynx and intense pain on muscle palpation. You can change the settings or obtain more information by clicking here.

File:Carnitine – Wikimedia Commons

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. Genetic counseling Transmission is autosomal recessive. He was evaluated at the Emergency Room because of generalized muscle pain and odynophagia.

The consequence is muscle destruction or rhabdomyolysis. He was discharged with polyuria and decreasing creatinine. Si continua navegando, consideramos que acepta su uso. Summary and related texts.

The Journal publishes articles on basic or clinical research relating to nephrology, arterial hypertension, dialysis and kidney transplants. L-carnitine administration and anaplerotic diet therapy with triheptanoin have been suggested for treatment of the disease; however benefits have trnasferasa been proven.