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.

Author: Akinoshicage Tygorg
Country: Denmark
Language: English (Spanish)
Genre: History
Published (Last): 11 July 2018
Pages: 176
PDF File Size: 6.9 Mb
ePub File Size: 1.14 Mb
ISBN: 255-7-79923-387-9
Downloads: 47146
Price: Free* [*Free Regsitration Required]
Uploader: Tazragore

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet: Deficiencia de carnitina palmitoiltransferasa II

More than CPT II cases have been described with the myopathic form being the most common myopathic form: The myopathic form is the least 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. The severe infantile form is characterized by a severe fasting intolerance leading to metabolic disorders such as hypoketotic hypoglycemia and hepatic encephalopathy.

  GOETHE ECKERMANN GESPRCHE PDF

The lethal neonatal form includes symptoms of the infantile disease as well as dysmorphic features e.

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.

The severe infantile form may lead to sudden death during infancy due, in general, to paroxysmal cardiac arrhythmias. The neonatal form is almost always lethal during transfegasa first months of life. Other search option s Alphabetical list.

carnitine palmitoyltransferase II deficiency – Wikidata

Summary and related texts. Check this box if you wish to receive a copy of your message. Clinical description The myopathic form is the least 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.

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 carnitins Antenatal diagnosis Prenatal diagnosis is available based on a combination of enzymatic and molecular testing.

  L&T MCB CATALOGUE FILETYPE PDF

Genetic counseling Transmission is autosomal recessive. Detailed information Professionals Clinical genetics review English Additional information Further information on this disease Classification s 3 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s 9. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 67 Orphan drug s 1.

Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only.

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.