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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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A muscle biopsy from the deltoid muscle was performed. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 67 Orphan drug s 1. Profilaxis del fracaso renal agudo.

File:Carnitine – Wikimedia Commons

J Am Coll Surg The material 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.

A total of 6 sessions were required. The trandferasa showed abnormal distribution of radiotracer with intense deposits in the muscles of the thorax, abdomen and extremities fig. In case of CPT deficiency fatty acids do not enter in the mitochondria to be oxidized and no energy is obtained.

Treatment was initiated with intravenous fluid therapy, urine alkalinization and manitol. Si continua navegando, consideramos que acepta su uso. Summary and related texts. He was 18 years old and had a history of febrile episodes in the childhood and tonsillectomy.


Deficiencia de carnitina palmitoiltransferasa tipo II

Previous article Next article. CiteScore measures average citations received per document published. Renal acute failure is due to intratubular deposition of myoglobin. Print Send to a friend Export reference Mendeley Statistics. February Pages Other search option s Alphabetical list.

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.

The severe infantile form may lead to sudden death during infancy due, in general, to paroxysmal cardiac arrhythmias. However they are a preventable cause of acute renal failure, which very often goes unnoticed.

Physical examination was unremarkable except for hyperemic pharynx and intense pain on muscle palpation. About cases of the myopathic form have been reported in the literature, but this number may under-estimate the disease prevalence.

Am J Obstet Gynecol Check this box if you wish to receive a copy of your message. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. carnitna

File:Carnitine structure.png

The familial study disclosed that one sister was also affected. The treatment is to avoid the factors that can trigger rhabdomyolysis, like prolonged fasting, to eating a low-fat high-carbohydrate defociencia, frequent meals and with excessive carbohydrates intake after exercise. You can change the settings or obtain more information by clicking here. Other search option s Alphabetical list. For all other comments, please send your remarks via contact us.


Summary Epidemiology About cases of the myopathic form have been reported in the literature, but this number may under-estimate the disease prevalence. Genetic counseling Transmission is autosomal recessive.

Transmission is autosomal recessive. Genetic counseling Transmission is autosomal recessive. The clinical picture consists of recurrent episodes of muscular weakness, myalgias, rhabdomyolysis or acute renal failure. CPT deficiency is the most frequent metabolic myopathy. Carmen Bernis aY. He was discharged with polyuria and decreasing creatinine. He was discharged with polyuria and decreasing creatinine.

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.