Because of a lapse in government funding, the information on this website may not be up to date, transactions submitted via the website may not be processed, and the agency may not be able to respond to inquiries until appropriations are enacted. The NIH Clinical Center (the research hospital of NIH) is open. For more details about its operating status, please visit cc.nih.gov. Updates regarding government operating status and resumption of normal operations can be found at opm.gov.

NLM Logo

Carnitine palmitoyl transferase 2 deficiency MeSH Supplementary Concept Data 2025


MeSH Supplementary
Carnitine palmitoyl transferase 2 deficiency
Unique ID
C535589
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C535589
Entry Term(s)
Carnitine Palmitoyltransferase 2 Deficiency
Carnitine Palmitoyltransferase Ii Deficiency
Carnitine palmitoyltransferase deficiency type 2
Cpt Ii Deficiency
Cpt2 Deficiency
Muscle form of carnitine palmitoyltransferase deficiency
Registry Numbers
0
Heading Mapped to
Carnitine O-Palmitoyltransferase / deficiency
*Metabolism, Inborn Errors
Frequency
69
Note
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.
Date of Entry
2010/08/25
Revision Date
2015/08/17
Carnitine palmitoyl transferase 2 deficiency Preferred
page delivered in 0.005s