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 the 9th day the patient recovered diuresis.

Deficiencia de carnitina palmitoiltransferasa tipo II

Patients are transferaxa between episodes of rhabdomyolysis. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 67 Orphan drug s 1. A total of 6 sessions were required. The severe infantile form is characterized by a severe fasting intolerance leading to metabolic disorders such as hypoketotic hypoglycemia and hepatic encephalopathy.

This item has received. Rhabdomyolysis and myoglobinuric acute renal failure.

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Detailed information Professionals Clinical genetics review English He was 18 years old and had a history of febrile episodes in the childhood and tonsillectomy. Treatment was initiated with intravenous fluid therapy, urine alkalinization and manitol.


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 consequence is muscle destruction or rhabdomyolysis. Summary and related texts. He was discharged with polyuria and decreasing creatinine. Genetic counseling Transmission is autosomal recessive.

Carnitine palmitoil tranferase deficiency in pregnancy, a case report. L-carnitine administration and anaplerotic diet therapy with triheptanoin have been suggested for treatment of the disease; however benefits have not been proven. For all other comments, please send your remarks via pqlmitoil us.

J Am Coll Surg Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. We present a male, who developed severe habdomyolysis after an infectious episode leading to acute oliguric renal failure that required hemodialysis. February Pages A diagnosis of acute renal failure due to severe rhabdomyolysis of unknown origin was made and the patient was admitted to the hospital. Physical examination was unremarkable except for hyperemic pharynx and intense pain on muscle palpation.

Genetic counseling Transmission is autosomal recessive. Specialised Social Services Eurordis directory. In case of Dficiencia deficiency fatty acids do not enter in the mitochondria to be oxidized and no energy is obtained. The neonatal form is almost always lethal during the first months of life. Carmen Bernis aY. Check this box if you wish to receive a copy of your message.


Orphanet: Deficiencia de carnitina palmitoiltransferasa II forma miop tica

The treatment is to avoid the factors that can trigger rhabdomyolysis, like prolonged fasting, to eating a low-fat high-carbohydrate diet, tgansferasa meals and with excessive carbohydrates intake after exercise.

Only comments written in English can be processed. The Journal publishes articles on basic or clinical research relating to nephrology, arterial hypertension, dialysis and kidney transplants. A muscle biopsy from the deltoid muscle was performed. Renal ultrasound was normal. Renal acute failure is due to intratubular deposition of myoglobin.