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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Manitol use in acute renal failure is controversial, but in case of rhabdomyolysis it appears to reduce interstitial edema and to uptake free radicals.
The journal accepts submissions of articles in English and in Spanish languages. The neonatal form is almost always lethal during the first months of life.
Treatment was initiated with intravenous fluid therapy, urine alkalinization and manitol. J Deficienca Coll Deficienxia We present a male, who developed severe habdomyolysis after an infectious episode leading to acute oliguric renal failure that required hemodialysis.
However they are a preventable cause of acute renal failure, which very often goes unnoticed. Posttraumatic, ischemic, toxic, infectious, endocrine and immunological etiologies were ruled out. SRJ is a prestige metric based on the idea that not all citations are the same.
Renal ultrasound was normal. 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. Myoglobinuria and carnitine palmitoil tranferase deficiency in father and son.
Metabolic myopathies are a small percentage of rhabdomyolysis causes.
Am J Obstet Gynecol Carnitine palmitoil tranferase deficiency in pregnancy, a case report. The scintigraphy showed abnormal distribution of radiotracer with intense deposits in the muscles of the thorax, abdomen and extremities fig.
Deficiencia de carnitina palmitoiltransferasa tipo II
Clinical description The myopathic form is the degiciencia severe and is characterized by recurrent attacks of rhabdomyolysis, muscle pain and weakness triggered by prolonged physical exercise, fasting, viral illness or extremes in temperature. Early volume reposition,6 and urine alkalinization 7 with calcium and potassium monitoring are fundamental to prevent it.
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He was evaluated at the Emergency Room because of generalized muscle pain and odynophagia.
L-carnitine administration and anaplerotic diet therapy with triheptanoin have been suggested for treatment of the disease; however benefits have not been proven. The severe infantile form may lead to sudden death during infancy due, in general, to paroxysmal cardiac arrhythmias. It is governed by the peer review system and all original papers are subject to internal assessment and external reviews.
SerLeu mutation, which impairs enzyme stability. Summary and related texts. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.
Orphanet: Deficiencia de carnitina palmitoiltransferasa II
Subscribe to our Newsletter. The immunohistochemistry revealed type 2 carnitine-palmitoyl transferase CPT deficiency. This work is licensed under a Creative Commons Attribution 4. 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. The familial study disclosed that one sister was also affected. A diagnosis of acute renal failure due to severe rhabdomyolysis of unknown origin was made and the patient was admitted to the hospital.
Profilaxis del fracaso renal agudo. Print Send to a friend Export reference Mendeley Statistics. In the 9th day the patient recovered diuresis. Metabolic causes of mioglobinuria. 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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Physical examination was unremarkable except for hyperemic pharynx and intense pain on muscle palpation. Arterial blood gas analysis: About cases of the myopathic form have been reported in the literature, but this number may under-estimate the disease prevalence.