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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Clinical description The myopathic form is the least severe and is characterized by recurrent attacks of rhabdomyolysis, muscle pain and weakness carnitnia by prolonged physical exercise, fasting, viral illness or extremes in temperature. About cases of the myopathic form have been reported in the literature, but this number may under-estimate the disease prevalence. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field.
L-carnitine administration and anaplerotic diet therapy with triheptanoin have been suggested for treatment of the disease; however benefits have not been proven. J Am Coll Surg In two thirds of the patients the disease presents in the first or second decade. February Pages He was evaluated at the Emergency Room because of generalized muscle pain and odynophagia. CiteScore measures average citations received per document published. 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 frequent metabolic myopathy. More than CPT II cases have been described with the myopathic form being the most common myopathic form: In case of CPT deficiency fatty acids do not enter in the mitochondria to be oxidized and no energy is obtained. For all other comments, please send your remarks via contact us.
Summary and related texts. Patients are asymptomatic between episodes of rhabdomyolysis. Rhabdomyolysis and myoglobinuric acute renal failure. For all other comments, please send your remarks via contact us. The immunohistochemistry revealed type 2 carnitine-palmitoyl transferase CPT deficiency.
Genetic counseling Transmission is autosomal recessive. The neonatal form is almost always lethal during the first months of life. The Journal publishes articles on basic or clinical research relating to nephrology, arterial hypertension, dialysis and kidney transplants.
The lethal neonatal form includes symptoms of the infantile disease as well as dysmorphic features e. You can change the settings or obtain more information by clicking here.
The scintigraphy showed abnormal distribution of radiotracer with intense deposits in the muscles of the thorax, abdomen and extremities fig. Continuing navigation will be considered as acceptance of this use.
A palmjtoil of 6 sessions were required. The familial study disclosed that one sister was also affected. Arterial blood gas analysis: 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. Profilaxis del fracaso renal agudo. However they are a preventable paomitoil of acute renal failure, which very often goes unnoticed. Renal acute failure is due to intratubular deposition of myoglobin.
Orphanet: Deficiencia de carnitina palmitoiltransferasa II forma miop tica
J Am Coll Health Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Other search option s Alphabetical list. Additional information Further information on this disease Classification s 3 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s 9.
The familial study disclosed that one sister was also affected. Only comments written in English can be processed. 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.
Other search option s Alphabetical list. 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.
In two thirds of the patients the disease presents in the first or second decade. He was discharged with polyuria and decreasing creatinine. Physical examination was unremarkable except for hyperemic pharynx and intense pain on muscle palpation. SJR uses a similar algorithm as the Google page rank; it transferwsa a quantitative and qualitative measure of the journal’s impact. Acute renal failure due to carnitine palmitoyl transferase deficiency.
Summary and related texts.
Deficiencia de carnitina palmitoiltransferasa tipo II – Wikipedia, la enciclopedia libre
Forty-eight hours later he developed progressive increase of creatinine values to 5. 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. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 67 Orphan drug s 1.
Detailed information Professionals Clinical genetics review English 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.