Carnitine palmitoyl transferase 2 deficiency
Three autosomal recessive forms of this disorder caused by mutations in the CPT2 gene occur: The lethal neonatal form (OMIM: 608836) is characterized by RESPIRATORY FAILURE; SEIZURES; LIVER FAILURE; CARDIOMYOPATHY, and ARRHYTHMIA and is fatal in the first few days or months of life. The infantile form (OMIM: 600649) also affects the heart, liver, and muscles and can result in severe symptoms or death during FASTING or VIRAL INFECTION. The most common myopathic form (OMIM: 255110) occurs in young adults and is characterized by recurrent episodes of RHABDOMYOLYSIS triggered by prolonged exercise, fasting, or febrile illness.
Also Known As:
Carnitine Palmitoyltransferase 2 Deficiency; Carnitine Palmitoyltransferase Ii Deficiency; Carnitine palmitoyltransferase deficiency type 2; Cpt Ii Deficiency; Cpt2 Deficiency; Muscle form of carnitine palmitoyltransferase deficiency
Networked: 118
relevant articles (4 outcomes,
4 trials/studies)
Relationship Network
Bio-Agent Context: Research Results
Experts
1. | Yamaguchi, Seiji:
7 articles
(11/2017 - 10/2002)
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2. | Zierz, Stephan:
6 articles
(01/2020 - 01/2005)
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3. | Shigematsu, Yosuke:
5 articles
(01/2019 - 07/2003)
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4. | Takayanagi, Masaki:
4 articles
(11/2017 - 07/2003)
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5. | Yasuno, Tetsuhiko:
4 articles
(01/2016 - 03/2005)
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6. | Vladutiu, Georgirene D:
4 articles
(10/2009 - 11/2002)
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7. | Brivet, Michèle:
3 articles
(01/2022 - 05/2009)
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8. | Vissing, John:
3 articles
(01/2022 - 10/2002)
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9. | Ørngreen, Mette C:
3 articles
(01/2022 - 10/2002)
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10. | Deschauer, Marcus:
3 articles
(01/2019 - 01/2005)
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