MeSH Browser

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 Number: 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 MeSH Supplementary Concept Data 2024