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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carnitine palmitoyltransferase II deficiency – Wikidata

J Am Coll Health CPT deficiency is the most frequent metabolic myopathy. Print Send to a friend Export reference Mendeley Statistics.

The pamitoil 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. The severe infantile form may lead to sudden death during infancy due, in general, to paroxysmal cardiac arrhythmias.

He was 18 years old and had a history of febrile episodes deficiencka the childhood and tonsillectomy. A muscle biopsy from the deltoid muscle was performed. Transmission is autosomal recessive. The consequence is muscle destruction or rhabdomyolysis. Si continua navegando, consideramos que acepta su uso. In two thirds of the patients the disease presents in the first or second decade.

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The documents contained in this web site are presented for information purposes only. Summary Epidemiology About cases of the myopathic form have been reported in the literature, but this number may under-estimate the disease prevalence.


He was evaluated at the Emergency Room because of generalized muscle pain and odynophagia. Trasnferasa 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. SerLeu mutation, which impairs enzyme stability. Renal acute failure is due to intratubular deposition of myoglobin.

Deficiencia de carnitina palmitoiltransferasa tipo II

Specialised Social Services Eurordis directory. The immunohistochemistry revealed type 2 carnitine-palmitoyl transferase CPT deficiency. Rhabdomyolysis and myoglobinuric acute renal failure. Only comments written in English can be processed. Physical examination was unremarkable except for hyperemic defkciencia and intense pain on muscle palpation. Physical examination was unremarkable except for hyperemic carnitima and intense pain on muscle palpation.

It is governed by the peer review system and all original papers are subject to internal assessment and external reviews. In the 9th day the patient recovered diuresis.

Carnitine palmitoiltransferase deficiency in a collage athlete: More than CPT II cases have been described with the myopathic form being the most common myopathic form: 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. For all other comments, please send your remarks via contact us. Patients are asymptomatic between episodes of rhabdomyolysis.

The documents contained in this web site are presented for information purposes only. Myoglobinuria and carnitine palmitoil tranferase deficiency in father and son. Posttraumatic, ischemic, toxic, infectious, endocrine and immunological etiologies were ruled out.

Additional information Further information on this disease Classification s 3 Gene s 1 Clinical signs and symptoms Other website s 3. This work is licensed under a Creative Commons Attribution 4. Profilaxis del fracaso renal agudo.


Metabolic myopathies are a small percentage of rhabdomyolysis causes. The severe infantile form is characterized by a severe fasting intolerance leading to metabolic disorders such as hypoketotic hypoglycemia and hepatic encephalopathy. We present a male, who developed severe habdomyolysis after an infectious episode leading to acute oliguric renal failure that required hemodialysis.

SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. The clinical manifestations are characterized by recurrent attacks of rhabdomyolysis, muscle pain, and weakness triggered 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.

SRJ is a prestige metric based on the idea that not all citations are the same. L-carnitine administration and anaplerotic diet therapy with triheptanoin have been suggested for treatment of the disease; however benefits have not been proven.

Health care resources for this disease Expert centres Diagnostic tests Patient organisations 67 Orphan drug s 1. Other search option s Alphabetical list. Genetic counseling Transmission is autosomal recessive.

Home Articles in press Archive. However they are a preventable cause of acute renal failure, which very often goes unnoticed.