Research & Literature

Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up.

Yilmaz BS, Kor D, Mungan NO, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2015; (28(9-10)):1179-81.

Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect.

Mutlu-Albayrak H, Bene J, Oflaz MB, et al.

Case reports in genetics 2015; (2015()):259627 doi:10.1155/2015/259627.

Carnitine deficiency induces a short QT syndrome.

Roussel J, Labarthe F, Thireau J, et al.

Heart rhythm 2016; (13(1)):165-74.

Carnitine transport and fatty acid oxidation.

Longo N, Frigeni M, Pasquali M

Biochimica et biophysica acta 2016; (1863(10)):2422-35.

Primary Carnitine Deficiency - A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly.

Deswal S, Bijarnia-Mahay S, Manocha V, et al.

Indian journal of pediatrics 2017; (84(1)):83-85 doi:10.1007/s12098-016-2227-7.

Dilated Cardiomyopathy as the Only Clinical Manifestation of Carnitine Transporter Deficiency.

Papadopoulou-Legbelou K, Gogou M, Dokousli V, et al.

Indian journal of pediatrics 2017; (84(3)):231-233 doi:10.1007/s12098-016-2250-8.

Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency.

Rasmussen J, Lund AM, Risom L, et al.

Molecular genetics and metabolism reports 2014; (1()):241-248 doi:10.1016/j.ymgmr.2014.04.008.

Systemic primary carnitine deficiency with hypoglycemic encephalopathy.

Jun JS, Lee EJ, Park HD, Kim HS

Annals of pediatric endocrinology & metabolism 2016; (21(4)):226-229 doi:10.6065/apem.2016.21.4.226.

[Mutational analysis of SLC22A5 gene in eight patients with systemic primary carnitine deficiency].

Lin Y, Lin W, Yu K, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2017; (34(1)):35-39 doi:10.3760/cma.j.issn.1003-9406.2017.01.008.

Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death.

Lahrouchi N, Lodder EM, Mansouri M, et al.

European journal of human genetics : EJHG 2017; (25(6)):783-787 doi:10.1038/ejhg.2017.22.

Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.

Gallant NM, Leydiker K, Wilnai Y, et al.

Molecular genetics and metabolism 2017; (122(3)):76-84 doi:10.1016/j.ymgme.2017.06.015.

Clinical features and genotyping of patients with primary carnitine deficiency identified by newborn screening.

Sun Y, Wang YY, Jiang T

Journal of pediatric endocrinology & metabolism : JPEM 2017; (30(8)):879-883.

Functional and molecular studies in primary carnitine deficiency.

Frigeni M, Balakrishnan B, Yin X, et al.

Human mutation 2017; (38(12)):1684-1699 doi:10.1002/humu.23315.

SLC22A5 Mutations in a Patient With Systemic Primary Carnitine Deficiency and Cleft Palate-Successful Perioperative Management.

Hu CW, Hu CH, Wu-Chou YH, Lo LJ

The Journal of craniofacial surgery 2018; (29(6)):1601-1603 doi:10.1097/SCS.0000000000004595.

Primary carnitine deficiency in a 57-year-old patient with recurrent exertional rhabdomyolysis.

Echaniz-Laguna A, Biancalana V, Gaignard P, Chanson JB

BMJ case reports 2018; (2018()) doi:10.1136/bcr-2018-224272.

Recent advances in drug delivery via the organic cation/carnitine transporter 2 (OCTN2/SLC22A5).

Kou L, Sun R, Ganapathy V, et al.

Expert opinion on therapeutic targets 2018; (22(8)):715-726 doi:10.1080/14728222.2018.1502273.

A case of atypical systemic primary carnitine deficiency in Saudi Arabia.

Alghamdi A, Almalki H, Shawli A, et al.

Pediatric reports 2018; (10(2)):7705 doi:10.4081/pr.2018.7705.

L-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency.

Madsen KL, Preisler N, Rasmussen J, et al.

The Journal of clinical endocrinology and metabolism 2018; (103(12)):4580-4588 doi:10.1210/jc.2018-00953.

Primary Carnitine Deficiency: A Rare, Reversible Metabolic Cardiomyopathy.

Tomlinson S, Atherton J, Prasad S

Case reports in cardiology 2018; (2018()):3232105 doi:10.1155/2018/3232105.

Biochemical, Molecular, and Clinical Characterization of Patients With Primary Carnitine Deficiency via Large-Scale Newborn Screening in Xuzhou Area.

Zhou W, Li H, Huang T, et al.

Frontiers in pediatrics 2019; (7()):50 doi:10.3389/fped.2019.00050.

A newborn with seizures born to a mother diagnosed with primary carnitine deficiency.

Chen S, Hu Y, Huang Y, et al.

BMC pediatrics 2019; (19(1)):79 doi:10.1186/s12887-019-1452-4.

Primary carnitine deficiency with severe acute hepatitis following rotavirus gastroenteritis.

Ishige M, Fuchigami T, Furukawa M, et al.

Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy 2019; (25(11)):913-916 doi:10.1016/j.jiac.2019.04.020.

First Case Report of Primary Carnitine Deficiency Manifested as Intellectual Disability and Autism Spectrum Disorder.

Guevara-Campos J, González-Guevara L, Guevara-González J, Cauli O

Brain sciences 2019; (9(6)) doi:10.3390/brainsci9060137.

Molecular Autopsy Implicates Primary Carnitine Deficiency in Sudden Unexplained Death and Reversible Short QT Syndrome.

Gélinas R, Leach E, Horvath G, Laksman Z

The Canadian journal of cardiology 2019; (35(9)):1256.e1-1256.e2 doi:10.1016/j.cjca.2019.05.014.

Carnitine Inborn Errors of Metabolism.

Almannai M, Alfadhel M, El-Hattab AW

Molecules (Basel, Switzerland) 2019; (24(18)) doi:10.3390/molecules24183251.

[Clinical and genetic characteristics of primary carnitine deficiency identified by neonatal screening].

Li X, Zhu X, Jia C, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019; (36(12)):1167-1170 doi:10.3760/cma.j.issn.1003-9406.2019.12.004.

Slc22a5 haploinsufficiency does not aggravate the phenotype of the long-chain acyl-CoA dehydrogenase KO mouse.

Ranea-Robles P, Yu C, van Vlies N, et al.

Journal of inherited metabolic disease 2020; (43(3)):486-495 doi:10.1002/jimd.12204.

SLC22A5 (OCTN2) Carnitine Transporter-Indispensable for Cell Metabolism, a Jekyll and Hyde of Human Cancer.

Juraszek B, Nałęcz KA

Molecules (Basel, Switzerland) 2019; (25(1)) doi:10.3390/molecules25010014.

Primary carnitine deficiency - diagnosis after heart transplantation: better late than never!

Grünert SC, Tucci S, Schumann A, et al.

Orphanet journal of rare diseases 2020; (15(1)):87 doi:10.1186/s13023-020-01371-2.

Ventricular Fibrillation Caused by Primary Carnitine Deficiency.

Lu CC, Chang CW, Wu YH, Lin JC

The Journal of emergency medicine 2020; (59(1)):e17-e20 doi:10.1016/j.jemermed.2020.04.024.

Glioma cells survival depends both on fatty acid oxidation and on functional carnitine transport by SLC22A5.

Juraszek B, Czarnecka-Herok J, Nałęcz KA

Journal of neurochemistry 2021; (156(5)):642-657 doi:10.1111/jnc.15124.

Newborn screening for primary carnitine deficiency in Quanzhou, China.

Lin W, Wang K, Zheng Z, et al.

Clinica chimica acta; international journal of clinical chemistry 2021; (512()):166-171 doi:10.1016/j.cca.2020.11.005.

Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.

Manta A, Spendiff S, Lochmüller H, Thompson R

Journal of neuromuscular diseases 2021; (8(3)):401-417 doi:10.3233/JND-200621.

Increased detection of primary carnitine deficiency through second-tier newborn genetic screening.

Lin Y, Zhang W, Huang C, et al.

Orphanet journal of rare diseases 2021; (16(1)):149 doi:10.1186/s13023-021-01785-6.

Maternal Primary Carnitine Deficiency and a Novel Solute Carrier Family 22 Member 5 (SLC22A5) Mutation.

Jakoby M, Jaju A, Marsh A, Wilber A

Journal of investigative medicine high impact case reports 2021; (9()):23247096211019543 doi:10.1177/23247096211019543.

Newborn Screening and Genetic Analysis Identify Six Novel Genetic Variants for Primary Carnitine Deficiency in Ningbo Area, China.

Yang X, Li Q, Wang F, et al.

Frontiers in genetics 2021; (12()):686137 doi:10.3389/fgene.2021.686137.

Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.

Crefcoeur LL, Visser G, Ferdinandusse S, et al.

Journal of inherited metabolic disease 2022; (45(3)):386-405 doi:10.1002/jimd.12475.

A novel splice site variant in the POPDC3 causes autosomal recessive limb-girdle muscular dystrophy type 26.

Zhang L, Li W, Weng Y, et al.

Clinical genetics 2022; (102(4)):345-349 doi:10.1111/cge.14192.

Rare case of primary carnitine deficiency presenting as acute liver failure.

Jain S, Kumar K, Malhotra S, Sibal A

BMJ case reports 2022; (15(7)) doi:10.1136/bcr-2021-247225.

Phenotypic and molecular features of Thai patients with primary carnitine deficiency.

Liammongkolkul S, Boonyawat B, Vijarnsorn C, et al.

Pediatrics international : official journal of the Japan Pediatric Society 2023; (65(1)):e15404 doi:10.1111/ped.15404.

Primary carnitine deficiency is a life-long disease.

Crefcoeur LL, Melles MC, Bruning TA, et al.

JIMD reports 2022; (63(6)):524-528 doi:10.1002/jmd2.12319.

Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency.

Koleske ML, McInnes G, Brown JEH, et al.

Proceedings of the National Academy of Sciences of the United States of America 2022; (119(46)):e2210247119 doi:10.1073/pnas.2210247119.

Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China.

Chang S, Yang Y, Xu F, et al.

Frontiers in genetics 2022; (13()):1062715 doi:10.3389/fgene.2022.1062715.

Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns.

Crefcoeur LL, Heiner-Fokkema MR, Maase RE, et al.

JIMD reports 2023; (64(1)):57-64 doi:10.1002/jmd2.12334.

Patients with primary carnitine deficiency treated with L-carnitine are alive and doing well-A 10-year follow-up in the Faroe Islands.

Abrahamsen RK, Lund AM, Rasmussen J

JIMD reports 2023; (64(6)):453-459 doi:10.1002/jmd2.12383.

Systemic primary carnitine deficiency induces severe arrhythmia due to shortening of QT interval.

Lodewyckx P, Issa J, Gaschignard M, et al.

Molecular genetics and metabolism 2023; (140(4)):107733 doi:10.1016/j.ymgme.2023.107733.

Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening.

Ji X, Ge Y, Ni Q, et al.

Frontiers in genetics 2023; (14()):1304458 doi:10.3389/fgene.2023.1304458.

Low serum carnitine level is associated with increased urinary carnitine excretion in late pregnancy.

Kobori Y, Hirayama S, Fukushima Y, et al.

Annals of clinical biochemistry 2024; (61(5)):356-364 doi:10.1177/00045632241239806.

Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism.

Chan TCH, Mak CM, Yeung MCW, et al.

International journal of neonatal screening 2024; (10(1)) doi:10.3390/ijns10010019.

A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency.

Basan H, Azak E, Çetin İİ, et al.

Molecular syndromology 2024; (15(2)):156-160 doi:10.1159/000534932.

The Human OCTN Sub-Family: Gene and Protein Structure, Expression, and Regulation.

Galluccio M, Tripicchio M, Pochini L

International journal of molecular sciences 2024; (25(16)) doi:10.3390/ijms25168743.

Incorporating Next-Generation Sequencing as a Second-Tier Test for Primary Carnitine Deficiency.

Lin Y, Zheng Z, Lin W, Peng W

Molecular genetics & genomic medicine 2024; (12(9)):e70003 doi:10.1002/mgg3.70003.

Carnitine traffic and human fertility.

Mazza T, Scalise M, Console L, et al.

Biochemical pharmacology 2024; (230(Pt 1)):116565 doi:10.1016/j.bcp.2024.116565.

Systemic Primary Carnitine Deficiency Presenting With Substantia Nigra and Basal Ganglia Injury: A Case Report.

Saito T, Soma K, Kashisaka M, et al.

JIMD reports 2025; (66(3)):e70014 doi:10.1002/jmd2.70014.

Involvement of impaired carnitine-induced fatty acid oxidation in experimental and human diabetic kidney disease.

Ito S, Taguchi K, Kodama G, et al.

JCI insight 2025; (10(13)).

The global prevalence and genetic spectrum of primary carnitine deficiency.

Sun L, Yao K, Wu HJ

BMC genomic data 2025; (26(1)):44 doi:10.1186/s12863-025-01336-z.

Structural basis of sodium ion-dependent carnitine transport by OCTN2.

Davies JS, Zeng YC, Briot C, et al.

Nature communications 2025; (17(1)):181 doi:10.1038/s41467-025-66867-6.

Analysis of genetic mutation distribution and metabolic characteristics in patients with primary carnitine deficiency from the Ganzhou area, China.

Tu X, Zhang F, Chen J, Xie C

Clinica chimica acta; international journal of clinical chemistry 2026; (584()):120873 doi:10.1016/j.cca.2026.120873.

Acylcarnitines in Cancer Metabolism: Mechanistic Insights and Stratification Potential.

Lee HP, Oh J, Lee N, et al.

Cancers 2026; (18(4)) doi:10.3390/cancers18040713.