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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Deficiencia de carnitina palmitoiltransferasa tipo II
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Additional information Further information on this disease Classification s 3 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s 9. He was discharged with polyuria and decreasing creatinine.
Previous article Next article. Additional information Further information on this disease Classification s 3 Gene s 1 Clinical signs and symptoms Other website s 3. Genetic counseling Transmission is autosomal recessive. 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.
Continuing navigation will be considered as acceptance of this use. The disease is more common in men, probably reflecting an ascertainment bias related to exposure to prolonged exercise.
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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. This work is licensed under a Creative Commons Attribution 4.
The immunohistochemistry revealed type 2 carnitine-palmitoyl transferase CPT deficiency.
Metabolic myopathies are a small percentage of rhabdomyolysis causes. Physical examination was unremarkable except for hyperemic pharynx and intense pain on muscle palpation. In two thirds of the patients the disease presents in the first or second decade. CiteScore measures average citations received per document published. We present a male, who developed pakmitoil habdomyolysis after an infectious episode leading to acute oliguric renal failure that required hemodialysis.
He was evaluated at the Emergency Room because of generalized muscle pain and odynophagia. The consequence is muscle destruction or rhabdomyolysis. Rhabdomyolysis and myoglobinuric acute renal failure.
Manitol use in acute renal failure is controversial, but in case transfrasa rhabdomyolysis it appears to reduce interstitial edema and to uptake free radicals. Other search option s Alphabetical list.
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. February Pages Forty-eight hours later he developed progressive increase of creatinine values to 5.
About cases of the myopathic form have been reported in the literature, but this number may under-estimate the disease prevalence. In two thirds of the patients the disease presents in the first or second decade. The familial study disclosed that one sister was also affected. In the 9th day the patient recovered diuresis.
Renal ultrasound was normal. It is governed by the peer review system and all original cagnitina are subject to internal assessment and external reviews. The clinical manifestations are characterized by recurrent attacks of rhabdomyolysis, muscle pain, and weakness carnitna usually by prolonged physical exercise and sometimes exacerbated by extremes in temperature; episodes may also be provoked or exacerbated by prolonged fasting, such as may occur with intercurrent viral illness.
The familial study disclosed that one sister was also affected. 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. Early volume reposition,6 and urine alkalinization 7 with calcium and potassium monitoring are fundamental to prevent it.
The severe infantile form may lead to sudden death during infancy due, in general, to paroxysmal cardiac arrhythmias. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Profilaxis del fracaso renal agudo. The Journal publishes articles on basic or clinical research relating to nephrology, arterial hypertension, dialysis and kidney transplants.
Metabolic causes of mioglobinuria. Summary and related texts. SRJ is a prestige metric based on the idea that not all citations are the same. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field.
SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact.