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.

Author: Bragami Mer
Country: Sri Lanka
Language: English (Spanish)
Genre: Personal Growth
Published (Last): 25 April 2018
Pages: 146
PDF File Size: 6.7 Mb
ePub File Size: 12.76 Mb
ISBN: 631-7-62446-303-1
Downloads: 10393
Price: Free* [*Free Regsitration Required]
Uploader: Zulugul

For all other comments, gransferasa send your remarks via contact us. Physical examination was unremarkable except for hyperemic pharynx and intense pain on muscle palpation. Renal acute failure is due to intratubular deposition of myoglobin. The material dde 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.

This condition is the most frequent cause of recurrent myoglobinuria with no clear trigger and should be always suspected in these patients. We present a male, who developed severe habdomyolysis after an infectious episode leading to acute oliguric renal failure that required hemodialysis.

File:Carnitine structure.png

The scintigraphy showed abnormal distribution of radiotracer with intense deposits in the muscles of the thorax, dericiencia and extremities fig. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. This item has received.

J Am Coll Health 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. Previous article Next article. Differential diagnosis 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.


Orphanet: Deficiencia de carnitina palmitoiltransferasa II forma miop tica

Genetic counseling Transmission is autosomal recessive. Treatment was initiated with intravenous fluid therapy, urine alkalinization and manitol. Detailed information Professionals Clinical genetics review Paalmitoil The severe infantile form may lead to sudden death during infancy due, in general, to paroxysmal cardiac transferasz.

The immunohistochemistry revealed type 2 carnitine-palmitoyl transferase CPT deficiency. Rhabdomyolysis and myoglobinuric acute renal failure. It is governed by the peer review system and all original papers are subject to internal assessment and external reviews.

J Am Coll Surg dericiencia Carnitine palmitoil tranferase deficiency in pregnancy, a case report. Manitol use in acute renal failure is controversial, but in case of rhabdomyolysis it appears to reduce interstitial edema and to uptake free radicals.

Health care resources for this disease Expert centres Diagnostic tests Patient organisations 67 Orphan drug s 1. A total of 6 sessions were required. The Journal publishes articles on basic or clinical research defkciencia to nephrology, arterial hypertension, dialysis and kidney transplants.

Additional information Further information on this disease Classification s carnltina Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s 9. Early management of shock and prophylaxis of acute renal failure in traumatic rhabdomiolysis. Only comments written in English can be processed.

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 disease is more common in men, probably reflecting an ascertainment bias related to exposure to prolonged exercise. Deviciencia journal accepts submissions of articles in English and in Spanish languages.

Profilaxis del fracaso renal agudo. The ddficiencia contained in this web site are presented for information purposes only.

Deficiencia de carnitina palmitoiltransferasa tipo II

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 palmitol Antenatal diagnosis Prenatal diagnosis is available based on a combination of enzymatic and molecular testing.


In two thirds of the patients the disease presents in the first or second decade. Are you a health professional able to prescribe or dispense drugs? SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field.

Metabolic myopathies are a small percentage of rhabdomyolysis causes. Check this box if you wish to receive a copy of your message.

Posttraumatic, deficiiencia, toxic, infectious, endocrine and immunological etiologies were ruled out. 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.

Acute renal failure due to carnitine palmitoyl transferase deficiency. 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.

The ddeficiencia 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. Carnitine palmitoiltransferase deficiency in a collage athlete: