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.

Author: Tygogal Kigalkree
Country: Estonia
Language: English (Spanish)
Genre: Software
Published (Last): 6 May 2004
Pages: 356
PDF File Size: 7.39 Mb
ePub File Size: 5.40 Mb
ISBN: 489-5-31151-667-4
Downloads: 90435
Price: Free* [*Free Regsitration Required]
Uploader: Shakagul

Renal acute failure is due to intratubular deposition of myoglobin. Carnitine palmitoil tranferase deficiency in pregnancy, a case report. Metabolic myopathies are a small percentage of rhabdomyolysis causes.

carnitine palmitoyltransferase II deficiency – Wikidata

Treatment was initiated with intravenous fluid therapy, urine alkalinization and manitol. Differential diagnosis 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 Antenatal diagnosis Prenatal diagnosis is available based on a combination of enzymatic and molecular testing.

Detailed information Professionals Clinical genetics review English Metabolic causes of mioglobinuria. CiteScore measures average citations received per document published. The lethal neonatal form includes symptoms of the infantile disease as well as dysmorphic features e.

Deficiencia de carnitina palmitoiltransferasa tipo II

Arterial blood gas analysis: Previous article Next article. 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 may lead to sudden death during infancy due, in general, to paroxysmal cardiac arrhythmias.


Only comments written in English can be processed. Deficirncia measures contextual citation impact by wighting citations based on the total number of citations in a subject field.

Orphanet: Deficiencia de carnitina palmitoiltransferasa II forma miop tica

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as dde basis for diagnosis or treatment. The disease is more common in men, probably reflecting an ascertainment bias related to exposure to trasferasa exercise. The neonatal form is almost always lethal during the first months of life. The consequence is muscle destruction or rhabdomyolysis. Check this box if you wish to receive a copy of your message.

The immunohistochemistry revealed type 2 carnitine-palmitoyl transferase CPT deficiency. However they are a preventable cause of acute renal failure, which very often goes unnoticed.

We present a male, who developed severe habdomyolysis after an infectious episode trajsferasa to acute oliguric renal failure that required hemodialysis. SRJ is a prestige metric based on the idea that not all citations are the same.

The scintigraphy showed abnormal distribution of radiotracer with intense deposits in the muscles of the thorax, abdomen and extremities fig. 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.


File:Carnitine structure.png

Physical examination was unremarkable except for transferass pharynx and intense pain on muscle palpation. L-carnitine administration and anaplerotic diet therapy with triheptanoin have been suggested for treatment of the disease; however benefits have not been proven.

In two thirds of the patients the disease presents in the first or second decade.

Renal ultrasound was normal. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 67 Orphan drug s 1. Check this box if you wish to receive a copy of your message.

Myoglobinuria and carnitine palmitoil tranferase deficiency in father and son. In two thirds of the patients transfersaa disease presents in the first or second decade. Posttraumatic, ischemic, toxic, infectious, endocrine and immunological etiologies were ruled out. This condition is the most frequent cause of recurrent myoglobinuria with no clear trigger and should be always suspected in these patients.

Early management of shock and prophylaxis of acute renal failure in traumatic rhabdomiolysis. Profilaxis del fracaso renal agudo. dde

Patients are asymptomatic between episodes of rhabdomyolysis. The material is in no way palmitil to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.