Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation

被引:1
作者
Louis, Lebreton [1 ]
Margaux, Gaschignard [2 ]
Claire, Guibet [1 ]
Delphine, Lamireau [2 ]
Sandrine, Roche [2 ]
Emmanuel, Richard [1 ,3 ]
Cecile, Ged [1 ,3 ]
Samir, Mesli [1 ]
Isabelle, Redonnet-Vernhet [1 ,4 ]
机构
[1] CHU Bordeaux, Lab Biochim, Pole Biol & Pathol, Bordeaux, France
[2] CHU Bordeaux, Hop Pediat, Pole Pediat, Bordeaux, France
[3] Univ Bordeaux, INSERM BRIC U1035, Bordeaux, France
[4] Univ Bordeaux, lNSERM MRGM U1211, Bordeaux, France
来源
JIMD REPORTS | 2023年 / 64卷 / 01期
关键词
cardiomyopathy; children; fatty oxidation; primary carnitine deficiency; OCTN2; GENE; TRANSPORTER; MUTATIONS; PHENOTYPE; CARDIOMYOPATHY;
D O I
10.1002/jmd2.12346
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Primary carnitine deficiency (PCD) is an inherited disease of fatty acid beta-oxidation with autosomal recessive inheritance. The disease manifests as metabolic decompensation with hypoketotic hypoglycaemia associated with cardiomyopathy, hepatomegaly, rhabdomyolysis, and seizures. Various outcomes are described from asymptomatic adults to dramatic sudden infant death syndrome cases. We present a severe case of PCD decompensation in an 18-week-old female. She presented with hypotonia, moaning, diarrhea, and vomiting at the pediatric emergency. Initially suspected as intracranial hypertension, the clinical condition evolved rapidly and caused a reversible cardiac arrest with profound hypoglycemia. Despite carnitine supplementation, she succumbed from cardiac arrhythmia and multivisceral failure 4 days after admission. The genetic analyses showed a PCD with biallelic pathogenic variants of SLC22A5 gene. The case report is notable for the severity of the cardiac damage possibly favored by maternal carnitine deficiency during pregnancy. The analysis of previously published PCD cases highlights (i) the importance of having large access to emergency biochemical tests for early therapeutic care although the disease has unpredictable severity and (ii) the fact that the clinical outcome remains unpredictable if carnitine treatment is initiated late.
引用
收藏
页码:35 / 41
页数:7
相关论文
共 50 条
  • [31] Primary carnitine deficiency – diagnosis after heart transplantation: better late than never!
    Sarah C. Grünert
    Sara Tucci
    Anke Schumann
    Meike Schwendt
    Gwendolyn Gramer
    Georg F. Hoffmann
    Michelle Erbel
    Brigitte Stiller
    Ute Spiekerkoetter
    Orphanet Journal of Rare Diseases, 15
  • [32] Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening
    Lin, Yiming
    Lin, Bangbang
    Chen, Yanru
    Zheng, Zhenzhu
    Fu, Qingliu
    Lin, Weihua
    Zhang, Weifeng
    ORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)
  • [33] Left ventricular noncompaction cardiomyopathy and short QT syndrome due to primary carnitine deficiency
    Hanington, Oliver P.
    Armstrong, Catherine
    Pierre, Germaine
    Stuart, Graham
    Hancox, Jules C.
    ANNALS OF NONINVASIVE ELECTROCARDIOLOGY, 2023, 28 (06)
  • [34] General anesthesia with cisatracurium and sevoflurane for a patient with primary carnitine deficiency receiving L-carnitine therapy A case report
    Ai, Ling
    Fang, Yan
    MEDICINE, 2021, 100 (38)
  • [35] Primary carnitine deficiency - diagnosis after heart transplantation: better late than never!
    Gruenert, Sarah C.
    Tucci, Sara
    Schumann, Anke
    Schwendt, Meike
    Gramer, Gwendolyn
    Hoffmann, Georg F.
    Erbel, Michelle
    Stiller, Brigitte
    Spiekerkoetter, Ute
    ORPHANET JOURNAL OF RARE DISEASES, 2020, 15 (01)
  • [36] Primary Carnitine Deficiency as a Treatable Cause of Heart Failure in Young Patients
    Kayikcioglu, Meral
    Ozbay, Benay
    Yagmur, Burcu
    Canda, Ebru
    Bayraktaroglu, Selen
    Simsek, Evrim
    Ucar, Sema Kalkan
    TURK KARDIYOLOJI DERNEGI ARSIVI-ARCHIVES OF THE TURKISH SOCIETY OF CARDIOLOGY, 2022, 50 (07): : 535 - 539
  • [37] Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency
    Chen, Yao
    Lin, Qingying
    Zeng, Yinglin
    Qiu, Xiaolong
    Liu, Guanghua
    Zhu, Wenbin
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2021, 9 (02):
  • [38] Primary Carnitine Deficiency – A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly
    Shivani Deswal
    Sunita Bijarnia-Mahay
    Vinamr Manocha
    Keiichi Hara
    Yosuke Shigematsu
    Renu Saxena
    Ishwar C. Verma
    The Indian Journal of Pediatrics, 2017, 84 : 83 - 85
  • [39] Newborn screening for primary carnitine deficiency in Quanzhou, China
    Lin, Weihua
    Wang, Kunyi
    Zheng, Zhenzhu
    Chen, Yanru
    Fu, Caifeng
    Lin, Yiming
    Chen, Dongmei
    CLINICA CHIMICA ACTA, 2021, 512 : 166 - 171
  • [40] Newborn screening of primary carnitine deficiency: clinical and molecular genetic characteristics
    Hu, Haili
    Ma, Qingqing
    Wang, Yan
    Song, Wangsheng
    Xu, Hongyu
    ITALIAN JOURNAL OF PEDIATRICS, 2025, 51 (01)