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

Bonnefont JP, Djouadi F, Prip-Buus C, Gobin S, Munnich A, Bastin J. Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol Aspects Med. 2004;25:495–520.

Article  CAS  PubMed  Google Scholar 

Isackson PJ, Bennett MJ, Lichter-Konecki U, Willis M, Nyhan WL, Sutton VR, Tein I, Vladutiu GD. CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. Molec Genet Metab. 2008;94:422–7.

Article  CAS  PubMed  Google Scholar 

Taroni F, Gellera C, Cavadini P, et al. Lethal carnitine palmitoyltrans- ferase (CPT) II deficiency in newborns: a molecular-genetic study. Am J Hum Genet. 1994;55:A265.

Google Scholar 

Joshi PR, Deschauer M, Zierz S. Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients. J Neurol Sci. 2014;338(1–2):107–11.

Article  CAS  PubMed  Google Scholar 

Sigauke E, Rakheja D, Kitson K, Bennett MJ. Carnitine palmitoyltrans- ferase II deficiency: a clinical, biochemical, and molecular review. Lab Invest. 2003;83(11):1543–54.

Article  CAS  PubMed  Google Scholar 

Kidney development in, Hotoura E, Argyropoulou M, Papadopoulou F, Giapros V, Drougia A, Nikolopoulos P, Andronikou S. The first year of life in small-for-gestational-age preterm infants. Pediatr Radiol. 2005;35(10):991–4.

Article  Google Scholar 

Online mendelian inheritance in men, OMIM. An Online Catalog of Human Genes and Genetic Disorders. Vernon HJ. Carnitine-acylcarnitine translocase deficiency (CACTD). Updated 06/14/2021. https://www.omim.org.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24.

Article  PubMed  PubMed Central  Google Scholar 

Johansson LF, van Dijk F, de Boer EN, van Dijk-Bos KK, Jongbloed JD, van der Hout AH, Westers H, Sinke RJ, Swertz MA, Sijmons RH, Sikkema-Raddatz B. CoNVaDING: single exon variation detection in targeted NGS data. Hum Mutat. 2016;37(5):457–64.

Article  CAS  PubMed  Google Scholar 

Online mendelian inheritance in men, OMIM. An Online Catalog of Human Genes and Genetic Disorders. Bocchini CA. Carnitine palmitoyltransferase II (CPT II) deficiency, lethal neonatal. Updated 12/29/2016. https://www.omim.org.

Tan YY, Fong WYN, Chan CJ, Chandran S. Do renal and cardiac malformations in the fetus signal carnitine palmitoyltransferase II deficiency? A rare lethal fatty acid oxidation defect. BMJ Case Rep. 2022;15(12):e251321.

Article  PubMed  Google Scholar 

Saporito MAN, Vitaliti G, Pavone P, Di Stefano G, Striano P, Caraballo RH, Falsaperla R. Ictal blinking, an under-recognized phenomenon: our experience and literature review. Neuropsychiatr Dis Treat. 2017;13:1435–9.

Article  PubMed  PubMed Central  Google Scholar 

Falsaperla R, Perciavalle V, Pavone P, Praticò AD, Elia M, Ruggieri M, Caraballo R, Striano P. Unilateral Eye blinking arising from the Ictal Ipsilateral Occipital Area. Clin EEG Neurosci. 2016;47(3):243–6.

Article  PubMed  Google Scholar 

Wieser T. Carnitine Palmitoyltransferase II Deficiency. In: Genereviews, January 3, 2019. Editors: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A. Seattle (WA): University of Washington, Seattle; 1993–2023.

Hissink-Muller P, Lopriore E, Boelen C, Klumper F, Duran M, Walther F. Neonatal carnitine palmitoyltransferase II deficiency: failure of treatment despite prolonged survival. BMJ Case Rep. 2009;2009:bcr02. 2009.1550.

Article  PubMed Central  Google Scholar 

Hsiao YS, Jogl G, Esser V, Tong L. Crystal structure of rat carnitine palmitoyltransferase II (CPT-II). Biochem Biophys Res Commun. 2006;346(3):974–80.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yao D, Mizuguchi H, Yamaguchi M, Yamada H, Chida J, Shikata K, Kido H. Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy. Hum Mutat. 2008;29(5):718–27.

Article  CAS  PubMed  Google Scholar 

Orngreen MC, Duno M, Ejstrup R, Christensen E, Schwartz M, Sacchetti M, Vissing J. Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations. Ann Neurol. 2005;57(1):60–6.

Article  CAS  PubMed  Google Scholar 

Boemer F, Deberg M, Schoos R, Caberg JH, Gaillez S, Dugauquier C, Delbecque K, François A, Maton P, Demonceau N, Senterre G, Ferdinandusse S, Debray FG. Diagnostic pitfall in antenatal manifestations of CPT II deficiency. Clin Genet. 2016;89:193–7.

Article  CAS  PubMed  Google Scholar 

Taroni F, Verderio E, Dworzak F, Willems PJ, Cavadini P, DiDonato S. Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. Nat Genet. 1993;4(3):314–20.

Article  CAS  PubMed  Google Scholar 

Salerno S, Marrale M, Geraci C, Caruso G, Lo Re G, Lo Casto A, Midiri M. Cumulative doses analysis in young trauma patients: a single-centre experience. Radiol Med. 2016;121:144–52.

Article  PubMed  Google Scholar 

Salerno S, Granata C, Trapenese M, Cannata V, Curione D, Rossi Espagnet MC, Magistrelli A, Tomà P. Is MRI imaging in pediatric age totally safe? A critical reprisal. Radiol Med. 2018;123:695–702.

Article  PubMed  Google Scholar 

Wilcken B. Disorders of the Carnitine cycle and detection by Newborn Screening. Ann Acad Med Singap. 2008;37(12 Suppl):71–3.

PubMed  Google Scholar 

Smeets RJ, Smeitink JA, Semmekrot BA, Scholte HR, Wanders RJ, van den Heuvel LP. A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency. J Hum Genet. 2003;48:8–13.

Article  CAS  PubMed  Google Scholar 

Elpeleg ON, Hammerman C, Saada A, Shaag A, Golzand E, Hochner-Celnikier D, Berger I, Nadjari M. Antenatal presentation of carnitine palmitoyltransferase II deficiency. Am J Med Genet. 2001;102:183–7.

Article  CAS  PubMed  Google Scholar 

Taggart RT, Smail D, Apolito C, Vladutiu GD. Novel mutations associated with carnitine palmitoyltransferase II deficiency. Hum Mutat. 1999;13(3):210–20.

Article  CAS  PubMed  Google Scholar 

Fanin M, Anichini A, Cassandrini D, Fiorillo C, Scapolan S, Minetti C, Cassanello M, Donati MA, Siciliano G, D’Amico A, Lilliu F, Bruno C, Angelini C. Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. Clin Genet. 2012;82(3):232–9.

Article  CAS  PubMed  Google Scholar 

Anichini A, Fanin M, Vianey-Saban C, Cassandrini D, Fiorillo C, Bruno C, Angelini C. Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency. Neurol Res. 2011;33(1):24–32.

Article  CAS  PubMed  Google Scholar 

Thuillier L, Rostane H, Droin V, Demaugre F, Brivet M, Kadhom N, Prip-Buus C, Gobin S, Saudubray JM, Bonnefont JP. Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency. Hum Mutat. 2003;21(5):493–501.

Article  CAS  PubMed  Google Scholar 

Piro E, Schierz IAM, Antona V, Pappalardo MP, Giuffrè M, Serra G, Corsello G. Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation. Ital J Pediatr. 2020;46:136.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Serra G, Antona V, Schierz M, Vecchio D, Piro E, Corsello G. Esophageal atresia and Beckwith-Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report. Clin Case Rep. 2018;6(2):399–401.

Article  PubMed  PubMed Central  Google Scholar 

Serra G, Memo L, Antona V, Corsello G, Favero V. Lago P and Giuffrè M. Jacobsen syndrome and neonatal bleeding: report on two unrelated patients. Ital J Pediatr. 2021;47:147.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Serra G, Antona V, Di Pace MR, Giuffrè M, Morgante G, Piro E, Pirrello R, Salerno S, Schierz IAM, Verde V, Corsello G. Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene. Ital J Pediatr. 2022;48:206.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Piro E, Serra G, Antona V, Giuffrè M, Giorgio E, Sirchia F, Schierz IAM, Brusco A, Corsello G. Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome french-canadian type: case report of an Italian patient. Ital J Pediatr. 2020;46(1):140.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Serra G, Antona V, Cimador M, Collodoro G, Guida M, Piro E, Schierz IAM, Verde V, Giuffrè M, Corsello G. New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception. Ital J Pediatr. 2023;49(1):17.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Serra G, Felice S, Antona V, Di Pace MR, Giuffrè M, Piro E, Corsello G. Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP2K2 gene. Ital J Pediatr. 2022;48:65.

Article  PubMed  PubMed Central  Google Scholar 

Piro E, Serra G, Giuffrè M, Schierz IAM, Corsello G. 2q13 microdeletion syndrome: report on a newborn with additional features expanding the phenotype. Clin Case Rep. 2021;9:e04289.

Article  Google Scholar 

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