Research & Literature

Neonatal Carnitine Palmitoyltransferase II Deficiency: A Lethal Entity.

Malik S, Paldiwal AA, Korday CS, Jadhav SS

Journal of clinical and diagnostic research : JCDR 2015; (9(10)):SD01-2 doi:10.7860/JCDR/2015/13600.6560.

Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency.

Edmondson AC, Salant J, Ierardi-Curto LA, Ficicioglu C

JIMD reports 2017; (33()):93-97 doi:10.1007/8904_2016_528.

Stabilization of the thermolabile variant S113L of carnitine palmitoyltransferase II.

Motlagh L, Golbik R, Sippl W, Zierz S

Neurology. Genetics 2016; (2(2)):e53 doi:10.1212/NXG.0000000000000053.

Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.

Lehmann D, Motlagh L, Robaa D, Zierz S

International journal of molecular sciences 2017; (18(1)) doi:10.3390/ijms18010082.

Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders.

Aldubayan SH, Rodan LH, Berry GT, Levy HL

Pediatric emergency care 2017; (33(4)):296-301 doi:10.1097/PEC.0000000000001093.

A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency.

Ikeda N, Maruyama S, Nakano K, et al.

Molecular genetics and metabolism reports 2017; (11()):69-71 doi:10.1016/j.ymgmr.2017.04.010.

Sudden infant death from neonate carnitine palmitoyl transferase II deficiency.

Du SH, Zhang F, Yu YG, et al.

Forensic science international 2017; (278()):e41-e44 doi:10.1016/j.forsciint.2017.06.020.

Inborn Errors of Metabolism with Myopathy: Defects of Fatty Acid Oxidation and the Carnitine Shuttle System.

El-Gharbawy A, Vockley J

Pediatric clinics of North America 2018; (65(2)):317-335 doi:10.1016/j.pcl.2017.11.006.

Carnitine Palmitoyltransferase II Deficiency (CPT II) Followed By Rhabdomyolysis and Acute Kidney Injury.

Gjorgjievski N, Dzekova-Vidimliski P, Petronijevic Z, et al.

Open access Macedonian journal of medical sciences 2018; (6(4)):666-668 doi:10.3889/oamjms.2018.158.

Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt.

Balasubramanian M, Jenkins TM, Kirk RJ, et al.

Molecular genetics and metabolism reports 2018; (15()):69-70 doi:10.1016/j.ymgmr.2018.02.008.

Phenotype of carnitine palmitoyltransferase II (CPT II) deficiency: A questionnaire-based survey.

Joshi PR, Deschauer M, Zierz S

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2019; (59()):32-36 doi:10.1016/j.jocn.2018.11.023.

Carnitine palmitoyltransferase II deficiency with a focus on newborn screening.

Tajima G, Hara K, Yuasa M

Journal of human genetics 2019; (64(2)):87-98 doi:10.1038/s10038-018-0530-z.

Fatty acid oxidation disorders.

Merritt JL, Norris M, Kanungo S

Annals of translational medicine 2018; (6(24)):473 doi:10.21037/atm.2018.10.57.

A novel mutation leading to the lethal form of carnitine palmitoyltransferase type-2 deficiency.

Dorum S, Güney Varal I, Gorukmez O, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2019; (32(7)):781-783.

Recurrent Myalgia since Early Infancy-Misleading Clinical Course in a Child with Carnitine Palmitoyltransferase-II Deficiency.

Arélin M, Zierz S, Ceglarek U, et al.

Neuropediatrics 2020; (51(1)):53-56 doi:10.1055/s-0039-1694977.

Therapeutic potential of triheptanoin in metabolic and neurodegenerative diseases.

Wehbe Z, Tucci S

Journal of inherited metabolic disease 2020; (43(3)):385-391 doi:10.1002/jimd.12199.

Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.

Joshi PR, Zierz S

Molecules (Basel, Switzerland) 2020; (25(8)) doi:10.3390/molecules25081784.

Severe rhabdomyolysis in homozygote carnitine palmitoyltransferase II deficiency.

Schnedl WJ, Schenk M, Enko D, Mangge H

EXCLI journal 2020; (19()):1309-1313 doi:10.17179/excli2020-2866.

Dietary management and major clinical events in patients with long-chain fatty acid oxidation disorders enrolled in a phase 2 triheptanoin study.

Vockley J, Longo N, Madden M, et al.

Clinical nutrition ESPEN 2021; (41()):293-298 doi:10.1016/j.clnesp.2020.11.018.

Carnitine palmitoyltransferase II deficiency and post-COVID vaccination rhabdomyolysis.

Tan A, Stepien KM, Narayana STK

QJM : monthly journal of the Association of Physicians 2021; (114(8)):596-597 doi:10.1093/qjmed/hcab077.

Cause of recurrent rhabdomyolysis, carnitine palmitoyltransferase II deficiency and novel pathogenic mutation.

Çakar NE, Gör Z, Yeşil G

Ideggyogyaszati szemle 2021; (74(3-4)):135-138 doi:10.18071/isz.74.0135.

Successful orthotopic heart transplantation in CPTII deficiency.

Arnold GL, Yester J, McCracken E, et al.

Molecular genetics and metabolism 2021; (133(2)):182-184 doi:10.1016/j.ymgme.2021.04.005.

Cardiolipin Stabilizes and Increases Catalytic Efficiency of Carnitine Palmitoyltransferase II and Its Variants S113L, P50H, and Y479F.

Meinhardt B, Motlagh Scholle L, Seifert F, et al.

International journal of molecular sciences 2021; (22(9)) doi:10.3390/ijms22094831.

Carnitine palmitoyltransferase-II deficiency: case presentation and review of the literature.

Mccormick BJ, Chirila RM

Romanian journal of internal medicine = Revue roumaine de medecine interne 2021; (59(4)):420-424 doi:10.2478/rjim-2021-0021.

Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target?

Mador-House R, Liu Z, Dyack S

International journal of neonatal screening 2021; (7(3)) doi:10.3390/ijns7030055.

Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development.

Shelihan I, Rossignol E, Décarie JC, et al.

JIMD reports 2022; (63(1)):3-10 doi:10.1002/jmd2.12243.

Medium branched chain fatty acids improve the profile of tricarboxylic acid cycle intermediates in mitochondrial fatty acid β-oxidation deficient cells: A comparative study.

Karunanidhi A, Van't Land C, Rajasundaram D, et al.

Journal of inherited metabolic disease 2022; (45(3)):541-556 doi:10.1002/jimd.12480.

A Case of Carnitine Palmitoyltransferase II Deficiency in Bahrain With a Novel Mutation.

Alsahlawi Z, Fadhul Z, Mahmood A, et al.

Cureus 2022; (14(6)):e26043 doi:10.7759/cureus.26043.

Screening for newborn fatty acid oxidation disorders in Chongqing and the follow-up of confirmed children.

Chen M, Yin Y, Liu H, et al.

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2022; (51(3)):290-297 doi:10.3724/zdxbyxb-2022-0218.

Rhabdomyolysis Associated with Recent SARS-COV-2 Infection in a Patient with Carnitine Palmitoyltransferase II Deficiency.

Rambabova-Bushljetik I, Dzekova-Vidimliski P, Karanfilovski V, et al.

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki) 2022; (43(3)):61-66 doi:10.2478/prilozi-2022-0037.

Do renal and cardiac malformations in the fetus signal carnitine palmitoyltransferase II deficiency? A rare lethal fatty acid oxidation defect.

Tan YY, Fong WYN, Chan CJ, Chandran S

BMJ case reports 2022; (15(12)) doi:10.1136/bcr-2022-251321.

Mitochondrial carnitine palmitoyltransferase-II dysfunction: A possible novel mechanism for nonalcoholic fatty liver disease in hepatocarcinogenesis.

Yao M, Zhou P, Qin YY, et al.

World journal of gastroenterology 2023; (29(12)):1765-1778 doi:10.3748/wjg.v29.i12.1765.

Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury.

Akar HT, Yıldız Y, Mutluay R, et al.

CEN case reports 2024; (13(2)):81-85 doi:10.1007/s13730-023-00804-8.

Myopathic Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Rare Cause of Acute Kidney Injury and Cardiomyopathy.

Castillo E, Medina D, Schoenmann N

Cureus 2023; (15(10)):e46595 doi:10.7759/cureus.46595.

Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity.

Tajima G, Hara K, Tsumura M, et al.

International journal of neonatal screening 2023; (9(4)) doi:10.3390/ijns9040062.

Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome.

Serra G, Antona V, Insinga V, et al.

Italian journal of pediatrics 2024; (50(1)):67 doi:10.1186/s13052-024-01632-x.

Clinical characteristics and genetic analysis of six children with carnitine palmitoyltransferase 2 deficiency.

Zhang Y, Qiu W, Zhang H, et al.

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2024; (53(2)):207-212 doi:10.3724/zdxbyxb-2023-0611.

Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy.

Porta F, Maiorana A, Gragnaniello V, et al.

Italian journal of pediatrics 2024; (50(1)):204 doi:10.1186/s13052-024-01782-y.

Recurrent rhabdomyolysis caused by palmitoyltransferase II (CPT-2) deficiency but complete normal acylcarnitine profile: A patient presentation and review of the literature.

Lu CH, Yang CF, Chen YR, et al.

Molecular genetics and metabolism reports 2024; (41()):101151 doi:10.1016/j.ymgmr.2024.101151.

Carnitine Palmitoyltransferase II (CPT2) Deficiency: An Overlooked and Elusive Cause of Acute Kidney Injury.

Seferi S, Saliaj K, Likaj E, Rroji M

Cureus 2024; (16(9)):e70442 doi:10.7759/cureus.70442.

Battling Recurrent Rhabdomyolysis in Carnitine Palmitoyltransferase II Deficiency.

Isar MM, Begum HA, Mustafa R, et al.

Cureus 2024; (16(10)):e71524 doi:10.7759/cureus.71524.

A rare cause of acute kidney injury due to recurrent rhabdomyolysis: Carnitine palmitoyltransferase 2 deficiency.

Ozkan Kurtgoz P, Karakose S, Guney I

Hemodialysis international. International Symposium on Home Hemodialysis 2025; (29(1)):130-133 doi:10.1111/hdi.13195.

A case study of lethal neonatal CPT II deficiency: Novel insights from genetic analysis.

Tran TCM, Ta VT, Bui TB, et al.

Molecular genetics and metabolism reports 2024; (41()):101170 doi:10.1016/j.ymgmr.2024.101170.

Severe rhabdomyolysis in an infant due to fatty acid oxidation disorder: a case report.

Krug A, Perlot P, Empain A, et al.

Journal of medical case reports 2025; (19(1)):291 doi:10.1186/s13256-025-05350-8.

Autosomal recessive frameshift variant broadens HECW2-related disease spectrum.

Dehghanzad R, Eshaghkhani Y, Saberi M, et al.

European journal of medical genetics 2025; (77()):105036 doi:10.1016/j.ejmg.2025.105036.

Metabolic cardiomyopathies: untangling clinical heterogeneity with human stem-cell derived models.

Passadouro AS, Balfoort BM, Langeveld M, et al.

EMBO molecular medicine 2025; (17(11)):2853-2874 doi:10.1038/s44321-025-00313-4.