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Carnitine palmitoyltransferase II deficiency(CPT2)

MedGen UID:
137978
Concept ID:
C0342790
Disease or Syndrome
Synonyms: Carnitine palmitoyl transferase 2 deficiency; Carnitine palmitoyltransferase deficiency type 2; CPT2
SNOMED CT: Carnitine palmitoyltransferase deficiency type 2 (238002005); CPTII - Carnitine palmitoyltransferase deficiency type II (238002005); Muscle form of carnitine palmitoyltransferase deficiency (238002005); CPT2 - Carnitine palmitoyltransferase II deficiency (238002005); Carnitine palmitoyltransferase II deficiency (238002005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): CPT2 (1p32.3)
 
Monarch Initiative: MONDO:0015515
Orphanet: ORPHA157

Disease characteristics

Excerpted from the GeneReview: Carnitine Palmitoyltransferase II Deficiency
Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females. [from GeneReviews]
Authors:
Thomas Wieser   view full author information

Additional description

From MedlinePlus Genetics
Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT II deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form.

The severe infantile hepatocardiomuscular form of CPT II deficiency affects the liver, heart, and muscles. Signs and symptoms usually appear within the first year of life. This form involves recurring episodes of hypoketotic hypoglycemia, seizures, an enlarged liver (hepatomegaly), cardiomyopathy, and arrhythmia. Problems related to this form of CPT II deficiency can be triggered by periods of fasting or by illnesses such as viral infections. Individuals with the severe infantile hepatocardiomuscular form of CPT II deficiency are at risk for liver failure, nervous system damage, coma, and sudden death.

The myopathic form is the least severe type of CPT II deficiency. This form is characterized by recurrent episodes of muscle pain (myalgia) and weakness and is associated with the breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown. This protein can also damage the kidneys, in some cases leading to life-threatening kidney failure. Episodes of myalgia and rhabdomyolysis may be triggered by exercise, stress, exposure to extreme temperatures, infections, or fasting. The first episode usually occurs during childhood or adolescence. Most people with the myopathic form of CPT II deficiency have no signs or symptoms of the disorder between episodes.

The lethal neonatal form of CPT II deficiency becomes apparent soon after birth. Infants with this form of the disorder develop respiratory failure, seizures, liver failure, a weakened heart muscle (cardiomyopathy), and an irregular heart beat (arrhythmia). Affected individuals also have low blood glucose (hypoglycemia) and a low level of ketones, which are produced during the breakdown of fats and used for energy. Together these signs are called hypoketotic hypoglycemia. In many cases, the brain and kidneys are also structurally abnormal. Infants with the lethal neonatal form of CPT II deficiency usually live for a few days to a few months.  https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-ii-deficiency

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCarnitine palmitoyltransferase II deficiency
Follow this link to review classifications for Carnitine palmitoyltransferase II deficiency in Orphanet.

Recent clinical studies

Etiology

Yazıcı H, Ak G, Çelik MY, Erdem F, Yanbolu AY, Er E, Bozacı AE, Güvenç MS, Aykut A, Durmaz A, Canda E, Uçar SK, Çoker M
J Pediatr Endocrinol Metab 2024 Jan 29;37(1):33-41. Epub 2023 Nov 7 doi: 10.1515/jpem-2023-0298. PMID: 37925743
Cameron-Christie S, Wolock CJ, Groopman E, Petrovski S, Kamalakaran S, Povysil G, Vitsios D, Zhang M, Fleckner J, March RE, Gelfman S, Marasa M, Li Y, Sanna-Cherchi S, Kiryluk K, Allen AS, Fellström BC, Haefliger C, Platt A, Goldstein DB, Gharavi AG
J Am Soc Nephrol 2019 Jun;30(6):1109-1122. Epub 2019 May 13 doi: 10.1681/ASN.2018090909. PMID: 31085678Free PMC Article
Apostolopoulou M, Corsini A, Roden M
Eur J Clin Invest 2015 Jul;45(7):745-54. Epub 2015 Jun 15 doi: 10.1111/eci.12461. PMID: 25991405
Deschauer M, Wieser T, Zierz S
Arch Neurol 2005 Jan;62(1):37-41. doi: 10.1001/archneur.62.1.37. PMID: 15642848
Vladutiu GD
Muscle Nerve 1999 Jul;22(7):949-51. doi: 10.1002/(sici)1097-4598(199907)22:7<949::aid-mus23>3.0.co;2-i. PMID: 10398218

Diagnosis

Mccormick BJ, Chirila RM
Rom J Intern Med 2021 Dec 1;59(4):420-424. Epub 2021 Nov 20 doi: 10.2478/rjim-2021-0021. PMID: 34118800
Tajima G, Hara K, Yuasa M
J Hum Genet 2019 Feb;64(2):87-98. Epub 2018 Dec 4 doi: 10.1038/s10038-018-0530-z. PMID: 30514913
Lehmann D, Motlagh L, Robaa D, Zierz S
Int J Mol Sci 2017 Jan 3;18(1) doi: 10.3390/ijms18010082. PMID: 28054946Free PMC Article
Sigauke E, Rakheja D, Kitson K, Bennett MJ
Lab Invest 2003 Nov;83(11):1543-54. doi: 10.1097/01.lab.0000098428.51765.83. PMID: 14615409
Tein I
Semin Perinatol 1999 Apr;23(2):125-51. doi: 10.1016/s0146-0005(99)80046-9. PMID: 10331465

Therapy

Saeed A, Hadley TD, Jia X, Ballantyne CM
J Clin Lipidol 2019 Jul-Aug;13(4):550-553. Epub 2019 May 10 doi: 10.1016/j.jacl.2019.05.001. PMID: 31235404
Shima A, Yasuno T, Yamada K, Yamaguchi M, Kohno R, Yamaguchi S, Kido H, Fukuda H
Intern Med 2016;55(18):2659-61. Epub 2016 Sep 15 doi: 10.2169/internalmedicine.55.6288. PMID: 27629963
Apostolopoulou M, Corsini A, Roden M
Eur J Clin Invest 2015 Jul;45(7):745-54. Epub 2015 Jun 15 doi: 10.1111/eci.12461. PMID: 25991405
Roe CR, Yang BZ, Brunengraber H, Roe DS, Wallace M, Garritson BK
Neurology 2008 Jul 22;71(4):260-4. doi: 10.1212/01.wnl.0000318283.42961.e9. PMID: 18645163Free PMC Article
Deschauer M, Wieser T, Zierz S
Arch Neurol 2005 Jan;62(1):37-41. doi: 10.1001/archneur.62.1.37. PMID: 15642848

Prognosis

Çakar NE, Gör Z, Yeşil G
Ideggyogy Sz 2021 Mar 30;74(3-4):135-138. doi: 10.18071/isz.74.0135. PMID: 33938664
Cameron-Christie S, Wolock CJ, Groopman E, Petrovski S, Kamalakaran S, Povysil G, Vitsios D, Zhang M, Fleckner J, March RE, Gelfman S, Marasa M, Li Y, Sanna-Cherchi S, Kiryluk K, Allen AS, Fellström BC, Haefliger C, Platt A, Goldstein DB, Gharavi AG
J Am Soc Nephrol 2019 Jun;30(6):1109-1122. Epub 2019 May 13 doi: 10.1681/ASN.2018090909. PMID: 31085678Free PMC Article
Tajima G, Hara K, Yuasa M
J Hum Genet 2019 Feb;64(2):87-98. Epub 2018 Dec 4 doi: 10.1038/s10038-018-0530-z. PMID: 30514913
Yahyaoui R, Espinosa MG, Gómez C, Dayaldasani A, Rueda I, Roldán A, Ugarte M, Lastra G, Pérez V
Mol Genet Metab 2011 Nov;104(3):414-6. Epub 2011 May 12 doi: 10.1016/j.ymgme.2011.05.003. PMID: 21641254
Vladutiu GD
Muscle Nerve 1999 Jul;22(7):949-51. doi: 10.1002/(sici)1097-4598(199907)22:7<949::aid-mus23>3.0.co;2-i. PMID: 10398218

Clinical prediction guides

Cameron-Christie S, Wolock CJ, Groopman E, Petrovski S, Kamalakaran S, Povysil G, Vitsios D, Zhang M, Fleckner J, March RE, Gelfman S, Marasa M, Li Y, Sanna-Cherchi S, Kiryluk K, Allen AS, Fellström BC, Haefliger C, Platt A, Goldstein DB, Gharavi AG
J Am Soc Nephrol 2019 Jun;30(6):1109-1122. Epub 2019 May 13 doi: 10.1681/ASN.2018090909. PMID: 31085678Free PMC Article
Lehmann D, Motlagh L, Robaa D, Zierz S
Int J Mol Sci 2017 Jan 3;18(1) doi: 10.3390/ijms18010082. PMID: 28054946Free PMC Article
Roe CR, Yang BZ, Brunengraber H, Roe DS, Wallace M, Garritson BK
Neurology 2008 Jul 22;71(4):260-4. doi: 10.1212/01.wnl.0000318283.42961.e9. PMID: 18645163Free PMC Article
Gempel K, Kiechl S, Hofmann S, Lochmüller H, Kiechl-Kohlendorfer U, Willeit J, Sperl W, Rettinger A, Bieger I, Pongratz D, Gerbitz KD, Bauer MF
J Inherit Metab Dis 2002 Feb;25(1):17-27. doi: 10.1023/a:1015109127986. PMID: 11999976
Vladutiu GD
Muscle Nerve 1999 Jul;22(7):949-51. doi: 10.1002/(sici)1097-4598(199907)22:7<949::aid-mus23>3.0.co;2-i. PMID: 10398218

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT, 2022
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Increased C16 and/or C18:1 Acylcarnitine, Carnitine Palmitoyltransferase II (CPT II) Deficiency and Carnitine Acylcarnitine Translocase (CACT) Deficiency, 2022
    • ACMG Algorithm, 2022
      American College of Medical Genetics and Genomics, Algorithm, C16 +/- C18:1 Elevated: CPT II or CACT, 2022

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