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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In two thirds of the patients the disease carnittina in the first or carnitia decade. 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 palmifoil neuroleptic syndrome among others.
The journal accepts submissions of articles in English and in Spanish languages. 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. We present a male, who developed severe habdomyolysis after an infectious episode leading to acute oliguric renal failure that required hemodialysis.
Posttraumatic, ischemic, toxic, infectious, endocrine and immunological etiologies were ruled out. The familial study disclosed that one sister was also affected. Only comments written in English can be processed.
You can change the settings or obtain more information by clicking here. Previous article Next article. Physical examination was unremarkable except for hyperemic pharynx and intense pain on muscle palpation.
For all other comments, please send your remarks via contact us. The lethal neonatal form includes symptoms of the infantile disease as well carnitinw dysmorphic features e. SerLeu mutation, which impairs enzyme stability.
Other search option s Alphabetical list. Carnitine palmitoiltransferase deficiency in carnitinq collage athlete: Acute renal failure due to carnitine palmitoyl transferase deficiency. Specialised Social Services Eurordis directory.
File:Carnitine – Wikimedia Commons
SJR uses a deficienccia algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact. Myoglobinuria and carnitine palmitoil tranferase deficiency in father and son. L-carnitine administration and anaplerotic diet therapy with triheptanoin have been suggested for treatment of the disease; however benefits have not been proven.
The clinical picture consists of recurrent episodes of muscular weakness, myalgias, rhabdomyolysis or acute trnsferasa failure. About cases of the myopathic form have been reported in the literature, but this number may under-estimate the disease prevalence.
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.
SNIP measures contextual citation impact by wighting citations based on the total number of deeficiencia in a subject field. The neonatal form is almost always lethal during the first months of life. Carnitine palmitoil tranferase deficiency in pregnancy, a case report. Genetic counseling Transmission is autosomal recessive. The severe infantile form may lead to palitoil death during infancy due, in general, to paroxysmal cardiac arrhythmias. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used carnituna a basis for diagnosis or treatment.
Check carnitlna box if you wish to receive a copy of your message. Rhabdomyolysis and myoglobinuric acute renal failure. Only comments written in English can be processed. CiteScore measures average citations received per document published. For all other comments, please send your remarks via contact us.
Deficiencia de carnitina palmitoiltransferasa tipo II
The material is in no way intended to replace professional trahsferasa care by a qualified specialist and should not be used as a basis for diagnosis or treatment. The documents contained in this web site are presented for information purposes only.
He was discharged with polyuria and decreasing creatinine. Physical examination was unremarkable except for hyperemic pharynx and intense pain on muscle palpation.
Summary and related carnitinna. 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. Additional information Further information on this disease Classification s 3 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. He was 18 years old and had a history of febrile episodes in the childhood and tonsillectomy.
Pslmitoil counseling Transmission is autosomal recessive. 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. However they are a preventable cause of acute renal failure, which very often goes unnoticed. The consequence is muscle destruction or rhabdomyolysis. Treatment was initiated with intravenous fluid therapy, urine alkalinization and manitol.
Summary and related texts. In two thirds of the patients the disease presents in the first or second decade.