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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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.
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 fe infantile and neonatal forms Antenatal diagnosis Prenatal diagnosis is available based on a combination of enzymatic and molecular testing.
Specialised Social Services Eurordis directory. Rhabdomyolysis and myoglobinuric acute renal failure. The severe infantile form may lead to sudden death during infancy due, in general, to paroxysmal cardiac arrhythmias. This work is licensed under a Creative Commons Attribution 4.
He was discharged with polyuria and decreasing creatinine. In case of CPT deficiency fatty acids do not enter in the mitochondria to be oxidized and no energy is obtained. He was evaluated at the Emergency Room because of generalized muscle pain and odynophagia. The Journal publishes articles on basic or clinical research relating to nephrology, arterial hypertension, dialysis and kidney transplants. Check this box if you wish to receive a copy of your message.
Acute renal failure due to carnitine palmitoyl transferase deficiency. Print Send to a friend Export reference Mendeley Statistics. In the 9th day the patient recovered diuresis.
Orphanet: Deficiencia de carnitina palmitoiltransferasa II forma miop tica
CPT deficiency is the most frequent metabolic myopathy. Detailed information Professionals Clinical genetics review English Carnitine palmitoil tranferase deficiency in pregnancy, a case report.
Early volume reposition,6 and canritina alkalinization 7 with calcium and potassium monitoring are fundamental to prevent it.
Clinical description The myopathic form is the palkitoil 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. We present a male, who developed severe habdomyolysis after an infectious episode leading to acute oliguric renal failure that required hemodialysis.
Forty-eight hours later he developed progressive increase of creatinine values to 5.
Renal ultrasound was normal. Summary and related texts. Differential diagnosis The differential diagnosis should include McArdle disease, Duchenne muscular dystrophy, cytochrome c oxidase deficiency deficciencia these termscomplex II deficiency, complex III deficiency and rhabdomyolysis due to excessive exercise, infections, autoimmune reactions or drug-related neuroleptic syndrome among others.
Other search option s Alphabetical list. The lethal neonatal form includes symptoms of the infantile disease as well as dysmorphic features e. 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.
A diagnosis of acute renal failure due transgerasa severe rhabdomyolysis of unknown origin was made and the patient was admitted to the hospital. For all other comments, please send your remarks via contact us.
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Are you a health professional able to prescribe or dispense drugs? Check this box if you wish to receive a copy of your message. Posttraumatic, ischemic, toxic, infectious, endocrine and immunological etiologies were ruled out.
The immunohistochemistry revealed type 2 carnitine-palmitoyl transferase CPT deficiency. 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.