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. Am J Obstet Gynecol A muscle biopsy from the deltoid muscle was performed.

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.

Profilaxis del fracaso renal agudo. Other search option s Alphabetical list. J Am Coll Health Home Articles in press Archive.

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Only comments written in English can be processed. Differential diagnosis The differential diagnosis for the myopathic form should include McArdle disease, Duchenne muscular dystrophy, and cytochrome carnitlna 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 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. The clinical picture consists of recurrent episodes of muscular weakness, myalgias, rhabdomyolysis or acute renal failure. Renal ultrasound was normal. Metabolic myopathies are a small percentage of rhabdomyolysis causes. Manitol use in acute renal failure is controversial, but in case of rhabdomyolysis it appears to reduce interstitial edema and to uptake free radicals.

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This work is licensed under a Creative Commons Attribution 4. Renal acute failure dee due to intratubular deposition of myoglobin. The journal accepts submissions of articles in English and in Spanish languages.

Deficiencia de carnitina palmitoiltransferasa tipo II

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

Previous article Next article. You can change the settings or obtain more information by clicking here. Other transerasa option s Alphabetical list.

Continuing navigation will be considered as acceptance of this use. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 67 Orphan drug s 1.

Additional information Further information on this disease Classification s 3 Gene s 1 Clinical signs and symptoms Other website s 3. CPT deficiency is the most frequent metabolic myopathy. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact. The severe infantile form is characterized by a severe fasting intolerance leading to metabolic disorders such as hypoketotic hypoglycemia and hepatic encephalopathy.

The familial study disclosed that one sister was also affected. SerLeu mutation, which impairs enzyme stability. 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.

Carnitine palmitoiltransferase deficiency in a collage athlete: The consequence is muscle destruction or rhabdomyolysis. The familial study disclosed that one sister was also affected. Summary Epidemiology About cases of the myopathic form have been reported in the deficienia, but this number may under-estimate the disease prevalence.

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Genetic counseling Transmission is autosomal recessive.

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 immunohistochemistry revealed type 2 carnitine-palmitoyl transferase CPT deficiency. Summary and related texts. The documents contained in this web site are presented for information purposes only.

Only comments seeking to improve the quality and veficiencia of information on the Orphanet website are accepted. He was 18 years old and had deficienciw history of febrile episodes in the childhood and tonsillectomy. Posttraumatic, ischemic, toxic, infectious, endocrine and immunological etiologies were ruled out. Detailed information Professionals Clinical genetics review English Check this box if you wish to receive a copy of your message. The treatment is to avoid the factors that can trigger rhabdomyolysis, like prolonged fasting, to eating a reficiencia high-carbohydrate diet, frequent meals and with excessive carbohydrates intake after exercise.

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Orphanet: Deficiencia de carnitina palmitoiltransferasa II

A total of 6 sessions were required. Patients are asymptomatic between episodes of rhabdomyolysis. This item has received. Physical examination was unremarkable except for hyperemic pharynx and intense pain on muscle palpation.

Myoglobinuria and carnitine palmitoil tranferase deficiency in father and son.