DEFICIENCIA DE CARNITINA PALMITOIL TRANSFERASA PDF

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 scintigraphy showed abnormal distribution of radiotracer with intense deposits in the muscles of the thorax, abdomen and extremities fig. He was discharged with polyuria and decreasing creatinine. Continuing navigation will be considered as acceptance of this use. He was discharged with polyuria and decreasing creatinine.

The documents contained in this web site are presented for information purposes only. Detailed information Professionals Clinical genetics review English The Journal publishes articles on basic or clinical research relating to nephrology, arterial hypertension, dialysis and kidney transplants.

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Deficiencia de carnitina palmitoiltransferasa tipo II

Posttraumatic, ischemic, toxic, infectious, endocrine and immunological etiologies were ruled out. Manitol use in acute renal failure is controversial, but in case of rhabdomyolysis it appears to reduce interstitial edema and to uptake free radicals.

Treatment was initiated with intravenous fluid therapy, urine alkalinization and manitol.

This condition is the most frequent cause of recurrent myoglobinuria with no clear trigger and should be always suspected in these patients. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 67 Orphan drug s 1.

Orphanet: Deficiencia de carnitina palmitoiltransferasa II

The severe infantile form may lead to sudden death during infancy due, in general, to paroxysmal cardiac arrhythmias. J Am Coll Health Carmen Bernis aY. Physical examination was unremarkable except for hyperemic pharynx and intense pain on muscle palpation.

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.

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Additional information Further information on this disease Classification s 3 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s 9. Profilaxis del fracaso renal agudo. Patients are asymptomatic between episodes of rhabdomyolysis. Additional information Further information on this disease Classification s 3 Gene s 1 Clinical signs and symptoms Other website s 3.

The familial study disclosed that one ppalmitoil was also affected.

SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. He was 18 years old and had a history of febrile episodes in the childhood and tonsillectomy.

A total of 6 sessions were required.

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Differential diagnosis The differential diagnosis for the myopathic form should include McArdle disease, Duchenne muscular dystrophy, and cytochrome c oxidase deficiency transfeasa 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 forms Antenatal diagnosis Prenatal diagnosis is available based on a combination of enzymatic and molecular testing.

Forty-eight hours later he developed progressive increase of creatinine values to 5. Si palmitooil navegando, consideramos que acepta su uso. A diagnosis of acute renal failure due to severe rhabdomyolysis of unknown origin was made and the patient was admitted to the hospital.

The treatment is transferaas 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. 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. Early volume reposition,6 and urine alkalinization 7 with calcium and potassium monitoring are fundamental to prevent it. This work is licensed under a Creative Commons Attribution 4.

CiteScore measures average citations received per document published. Carnitine palmitoiltransferase deficiency in a collage athlete: 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 forms.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.

The immunohistochemistry revealed type 2 carnitine-palmitoyl transferase CPT deficiency. More than CPT II cases have been described with the myopathic form being the most common myopathic form: The lethal neonatal form includes symptoms of the infantile disease as well as dysmorphic features e. The journal accepts submissions of articles in English and in Spanish languages. 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 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. Physical examination was unremarkable except for hyperemic pharynx and intense pain on muscle palpation.

carnitine palmitoyltransferase II deficiency – Wikidata

He was evaluated at the Emergency Room because of generalized muscle pain traneferasa odynophagia. February Pages Detailed information Professionals Clinical genetics review English The consequence is muscle destruction or rhabdomyolysis.

A muscle biopsy from the deltoid muscle was performed. Genetic counseling Transmission is autosomal recessive. Print Send to a friend Export reference Mendeley Statistics. Arterial blood gas analysis: