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.

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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)
2.	Zierz, Stephan: 6 articles (01/2020 - 01/2005)
3.	Shigematsu, Yosuke: 5 articles (01/2019 - 07/2003)
4.	Takayanagi, Masaki: 4 articles (11/2017 - 07/2003)
5.	Yasuno, Tetsuhiko: 4 articles (01/2016 - 03/2005)
6.	Vladutiu, Georgirene D: 4 articles (10/2009 - 11/2002)
7.	Brivet, Michèle: 3 articles (01/2022 - 05/2009)
8.	Vissing, John: 3 articles (01/2022 - 10/2002)
9.	Ørngreen, Mette C: 3 articles (01/2022 - 10/2002)
10.	Deschauer, Marcus: 3 articles (01/2019 - 01/2005)

Related Diseases

1.	Rhabdomyolysis 01/01/2023 - "Does SARS-Cov-2 Trigger Rhabdomyolysis in Carnitine-Palmitoyltransferase-II Deficiency?" 01/01/2023 - "From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency." 12/01/2021 - "We present a case of recurrent rhabdomyolysis requiring hospitalization in a patient with CPT-II deficiency and review the literature for common clinical manifestations, diagnostics, and treatment strategies." 12/01/2021 - "Carnitine palmitoyltransferase-II deficiency, an autosomal recessive disorder, is the most common cause of recurrent rhabdomyolysis in adults. " 11/05/2021 - "Carnitine palmitoyltransferase II deficiency and post-COVID vaccination rhabdomyolysis."
2.	Muscular Diseases (Myopathy) 11/01/2012 - "We report a case of adult CPT II deficiency presenting with the subtle symptoms of myopathy. " 11/01/2012 - "[Myopathy in the course of carnitine palmitoyltransferase II deficiency]." 01/01/2020 - "The diagnosis of CPT II deficiency helped this patient to put the symptoms into context, and this reduced myopathy and the risk of recurring rhabdomyolysis. " 01/01/2003 - "At the end of investigations, diagnosis of a metabolic myopathy was made in 33 patients: glycogenolysis or glycolysis deficiency in 8 cases, mitochondrial myopathy in 24 cases and CPT II deficiency in one case. " 01/01/2022 - "Hypercholesterolaemia treatment in a patient with family hypercholesterolaemia and myopathy due to carnitine palmitoyltransferase II deficiency with PCSK9 inhibitors."
3.	Muscle Weakness 01/01/2019 - "Wide spectrums of symptoms besides muscle weakness, different triggering factors and varied muscles involvement are associated with CPT II deficiency. " 09/01/2001 - "Carnitine palmitoyltransferase-II deficiency should be included in the differential diagnosis of isolated muscular weakness even when manifesting in early childhood." 01/01/2022 - "Therefore, evaluation of CPT-II deficiency with molecular test analysis may be helpful in cases with unexplained icteric appearance, muscle weakness, and rhabdomyolysis." 04/01/2016 - "Muscle carnitine palmitoyltransferase (CPT) II deficiency, the most common defect of lipid metabolism in muscle, is characterized by attacks of myoglobinuria without persistent muscle weakness. " 06/01/2008 - "Carnitine palmitoyltransferase II deficiency is a metabolic myopathy affecting the transport of fatty acids into the mitochondria, leading to impaired energy supply under stressful conditions resulting in muscle weakness and rhabdomyolysis. "
4.	Hypoglycemia (Reactive Hypoglycemia) 11/01/2002 - "A new phenotype for a severe late infantile form of CPT II deficiency with hypoglycemia is associated with compound heterozygosity for the severe Q413fs mutation and a mild point mutation (P50H)." 06/01/2008 - "The adult form of CPT2 deficiency is usually "benign", characterized by episodes of rhabdomyolysis without extramuscular manifestations and with a good outcome, while the infantile type characteristically presents with severe metabolic symptoms such as hypoketotic hypoglycemia. " 06/01/2008 - "Severe rhabdomyolysis with hypoglycemia in an adult patient with carnitine palmitoyltransferase II deficiency." 12/01/1999 - "The infantile-type CPT2 deficiency (10 families reported) presents as severe attacks of hypoketotic hypoglycemia, occasionally associated with cardiac damage commonly responsible for sudden death before 1 year of age. " 06/01/2008 - "We present here a case of severe rhabdomyolysis with acute renal failure and hypoglycemia in an adult patient with CPT2 deficiency."
5.	Myoglobinuria 10/21/2013 - "In this study, we report a case with adult myopathic form of CPT II deficiency presenting recurrent exercise-induced myoglobinuria. " 02/01/2000 - "CPT II deficiency should be included in the differential diagnosis of isolated myoglobinuria in infancy." 04/01/2016 - "The lower thermodynamic stability of the variant might explain why fever and prolonged exertion provoke attacks of myoglobinuria in CPT II deficiency. " 05/01/2008 - "The best known CPT II deficiency is the muscular form with episodic muscle necrosis and paroxysmal myoglobinuria after prolonged exercise. " 05/01/2006 - "A 30-yr-old primiparous woman with known carnitine palmitoyltransferase II deficiency and a past history of exercise induced muscle pain, weakness and myoglobinuria presented in active labour. "

Related Drugs and Biologics

1.	Carnitine O-Palmitoyltransferase (Carnitine Palmitoyltransferase II)
2.	Fatty Acids (Saturated Fatty Acids)
3.	Fenofibrate (CiL)
4.	Bezafibrate
5.	acylcarnitine
6.	Acyl Coenzyme A (Acyl CoA)
7.	Systemic carnitine deficiency
8.	Carnitine (L-Carnitine)
9.	Transferases
10.	Enzymes

Related Therapies and Procedures

1.	Therapeutics
2.	Heart Transplantation (Grafting, Heart)
3.	Immunotherapy
4.	Renal Dialysis (Hemodialysis)