Analysis of Clinical and Pathological Features of a Case of Primary Carnitine Deficiency

Yanqing Kong; Xin Wei; Xueyu Chen

doi:doi:10.11648/j.ijcems.20190501.11

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Analysis of Clinical and Pathological Features of a Case of Primary Carnitine Deficiency

Yanqing Kong, Xin Wei, Xueyu Chen

Published in International Journal of Clinical and Experimental Medical Sciences (Volume 5, Issue 1)

Received: 24 November 2018 Accepted: 19 December 2018 Published: 21 January 2019

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Abstract

In recent years, with the application of tandem mass spectrometry, an increasing number of patients with primary carnitine deficiency have been diagnosed in China. Because it is mainly concentrated in cities with good conditions, there are few reports of this disease in China. At present, the existing reports have mainly focused on screening and there are no reports addressing the degree of lesions in patients with primary carnitine deficiency. This article reports an pathological diagnosis upon autopsy of a patient with primary carnitine deficiency and describes and describes the pathological features of primary carnitine deficiency. The clinical data of the patient with primary carnitine were retrieved. A histologic analysis was performed on the liver. The autopsy pathology showed diffuse lesions in the patient's liver, interstitial pneumonia, pulmonary hemorrhage, pulmonary emphysema, and hilar lymphadenitis. The clinical response was characterized by abnormal liver function, fatty stool, abnormal renal function presenting as hematuria, and clinical manifestations such as elevated creatine kinase in the heart. Therefore, this pathological examination provides morphological diagnostic data for patients with primary carnitine deficiency and for the diagnosis of the degree of disease in these patients.

Published in	International Journal of Clinical and Experimental Medical Sciences (Volume 5, Issue 1)
DOI	10.11648/j.ijcems.20190501.11
Page(s)	1-4
Creative Commons	This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

Primary Carnitine Deficiency, Autopsy, Liver Enlargement, Chromosomal Genetic Disease

References

[1]	Jae Sung Jun, Eun Joo Lee, Hyung Doo Park. et al. Systemic primary carnitine deficiency with hypoglycemic encep encephalopathy [J]. Ann Pediatr Endocrinol Metabine 2016; 21: 226-229.
[2]	Rasmussen J, Nielsen OW, Lund AM, et al，Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events [J]. Inherited Metab Dis, 2013, 36, (1): 35-41.
[3]	Rasmussen J, Nielsen OW, Janzen N, et al. Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands [J]. J Inherit Metab Dis, 2014, 37 (4): 657.
[4]	Amat di San Filippo C, Taylor MR，Mestroni I, et a1. Cardiomyopathy and carnitine deficiency [J]. Mol Genct Metab, 2008, 94 (2): 162-166.
[5]	Kilic M, Ozgui RK, Coskun T, et al. Indentification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency [J]. Jimd Rep, 2012, 3: 17-23.
[6]	Steuerwald U, Lund AM, Rasmussen J, Janzen N, Hougaard DM, Longo N. Neonatal Screening for Primary Carnitine Deficiency: Lessons Learned from the Faroe Islands [J]. Int J Neonatal Screen. 2017; 3 (1): 1.
[7]	Longo N, Frigeni M, Pasquali M. Carnitine transport and fatty acid oxidation. Biochim Biophys Acta. 2016; 183 (10) 2422-35.
[8]	Wu X, Prasad PD, Leibach FH, et al. cDNA sequence, tansport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family [J]．Biochem Biophys Rescommun, 1998, 246 (3): 589-595.
[9]	Tan JQ, Chen DY, li ZT, et al. Genetic diagnosis of 10 neonates with primary carnitine deficiency [J]. Chin J Contemp Pediatr, 2017, 19 (11): 1150-1154.
[10]	Koizumi A, NozakI J, Ohura T, et al. Genetic epidemiology of the carnitine trasporter OCTN2 gene in a Japanese pedigrees with primary systemic carnitine deficiency [J]. Hum Mol Genet, 1999, 8 (12): 2247-2254.
[11]	Amat di San Fflippo C, Pasquali M, Longo N. Pharmaeologieal rescue of carnitine transport in primary carnitine deficiency [J]. Hum Mulat, 2006, 27: 513-523.
[12]	Rasmussen J, Thomsen JA, Olesen JH, et al. Carnitine levels in skeletal muscle, blood and urine in patients with primary carnitine deficiency during intermission with L-carnitine supplementation [J]. Jimd Rep, 2015, 20: 102-111.
[13]	Jun JS, Lee EJ, Park HD, et al.Systemic primary carnitine deficiency with hypoglycemic encep halopathy[J].Ann pediatr Endocrinol Metab, 2016, 21 (4): 226-229.
[14]	Magoulas PL, EL-Hattab AW. Systemic primary carnitine deficiency anover view of clinical manifestations, diagnosis, and management [J]. Orphanet J Rare Dis, 2012, 7: 68.
[15]	Crill CM, Helms RA. The use of carnitine in pediatric nutrition [J]. Nutr Clin Pract, 2007, 22 (2): 204-213.

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APA Style

Yanqing Kong, Xin Wei, Xueyu Chen. (2019). Analysis of Clinical and Pathological Features of a Case of Primary Carnitine Deficiency. International Journal of Clinical and Experimental Medical Sciences, 5(1), 1-4. https://doi.org/10.11648/j.ijcems.20190501.11

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ACS Style

Yanqing Kong; Xin Wei; Xueyu Chen. Analysis of Clinical and Pathological Features of a Case of Primary Carnitine Deficiency. Int. J. Clin. Exp. Med. Sci. 2019, 5(1), 1-4. doi: 10.11648/j.ijcems.20190501.11

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AMA Style

Yanqing Kong, Xin Wei, Xueyu Chen. Analysis of Clinical and Pathological Features of a Case of Primary Carnitine Deficiency. Int J Clin Exp Med Sci. 2019;5(1):1-4. doi: 10.11648/j.ijcems.20190501.11

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@article{10.11648/j.ijcems.20190501.11,
  author = {Yanqing Kong and Xin Wei and Xueyu Chen},
  title = {Analysis of Clinical and Pathological Features of a Case of Primary Carnitine Deficiency},
  journal = {International Journal of Clinical and Experimental Medical Sciences},
  volume = {5},
  number = {1},
  pages = {1-4},
  doi = {10.11648/j.ijcems.20190501.11},
  url = {https://doi.org/10.11648/j.ijcems.20190501.11},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijcems.20190501.11},
  abstract = {In recent years, with the application of tandem mass spectrometry, an increasing number of patients with primary carnitine deficiency have been diagnosed in China. Because it is mainly concentrated in cities with good conditions, there are few reports of this disease in China. At present, the existing reports have mainly focused on screening and there are no reports addressing the degree of lesions in patients with primary carnitine deficiency. This article reports an pathological diagnosis upon autopsy of a patient with primary carnitine deficiency and describes and describes the pathological features of primary carnitine deficiency. The clinical data of the patient with primary carnitine were retrieved. A histologic analysis was performed on the liver. The autopsy pathology showed diffuse lesions in the patient's liver, interstitial pneumonia, pulmonary hemorrhage, pulmonary emphysema, and hilar lymphadenitis. The clinical response was characterized by abnormal liver function, fatty stool, abnormal renal function presenting as hematuria, and clinical manifestations such as elevated creatine kinase in the heart. Therefore, this pathological examination provides morphological diagnostic data for patients with primary carnitine deficiency and for the diagnosis of the degree of disease in these patients.},
 year = {2019}
}

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TY  - JOUR
T1  - Analysis of Clinical and Pathological Features of a Case of Primary Carnitine Deficiency
AU  - Yanqing Kong
AU  - Xin Wei
AU  - Xueyu Chen
Y1  - 2019/01/21
PY  - 2019
N1  - https://doi.org/10.11648/j.ijcems.20190501.11
DO  - 10.11648/j.ijcems.20190501.11
T2  - International Journal of Clinical and Experimental Medical Sciences
JF  - International Journal of Clinical and Experimental Medical Sciences
JO  - International Journal of Clinical and Experimental Medical Sciences
SP  - 1
EP  - 4
PB  - Science Publishing Group
SN  - 2469-8032
UR  - https://doi.org/10.11648/j.ijcems.20190501.11
AB  - In recent years, with the application of tandem mass spectrometry, an increasing number of patients with primary carnitine deficiency have been diagnosed in China. Because it is mainly concentrated in cities with good conditions, there are few reports of this disease in China. At present, the existing reports have mainly focused on screening and there are no reports addressing the degree of lesions in patients with primary carnitine deficiency. This article reports an pathological diagnosis upon autopsy of a patient with primary carnitine deficiency and describes and describes the pathological features of primary carnitine deficiency. The clinical data of the patient with primary carnitine were retrieved. A histologic analysis was performed on the liver. The autopsy pathology showed diffuse lesions in the patient's liver, interstitial pneumonia, pulmonary hemorrhage, pulmonary emphysema, and hilar lymphadenitis. The clinical response was characterized by abnormal liver function, fatty stool, abnormal renal function presenting as hematuria, and clinical manifestations such as elevated creatine kinase in the heart. Therefore, this pathological examination provides morphological diagnostic data for patients with primary carnitine deficiency and for the diagnosis of the degree of disease in these patients.
VL  - 5
IS  - 1
ER  -

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Author Information

Yanqing Kong

Department of Pathology, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen, China
Xin Wei

Department of Pathology, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen, China
Xueyu Chen

Department of Neonatology, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen, China

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Plain Text BibTeX RIS

APA Style

Yanqing Kong, Xin Wei, Xueyu Chen. (2019). Analysis of Clinical and Pathological Features of a Case of Primary Carnitine Deficiency. International Journal of Clinical and Experimental Medical Sciences, 5(1), 1-4. https://doi.org/10.11648/j.ijcems.20190501.11

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ACS Style

Yanqing Kong; Xin Wei; Xueyu Chen. Analysis of Clinical and Pathological Features of a Case of Primary Carnitine Deficiency. Int. J. Clin. Exp. Med. Sci. 2019, 5(1), 1-4. doi: 10.11648/j.ijcems.20190501.11

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AMA Style

Yanqing Kong, Xin Wei, Xueyu Chen. Analysis of Clinical and Pathological Features of a Case of Primary Carnitine Deficiency. Int J Clin Exp Med Sci. 2019;5(1):1-4. doi: 10.11648/j.ijcems.20190501.11

Copy | Download

@article{10.11648/j.ijcems.20190501.11,
  author = {Yanqing Kong and Xin Wei and Xueyu Chen},
  title = {Analysis of Clinical and Pathological Features of a Case of Primary Carnitine Deficiency},
  journal = {International Journal of Clinical and Experimental Medical Sciences},
  volume = {5},
  number = {1},
  pages = {1-4},
  doi = {10.11648/j.ijcems.20190501.11},
  url = {https://doi.org/10.11648/j.ijcems.20190501.11},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijcems.20190501.11},
  abstract = {In recent years, with the application of tandem mass spectrometry, an increasing number of patients with primary carnitine deficiency have been diagnosed in China. Because it is mainly concentrated in cities with good conditions, there are few reports of this disease in China. At present, the existing reports have mainly focused on screening and there are no reports addressing the degree of lesions in patients with primary carnitine deficiency. This article reports an pathological diagnosis upon autopsy of a patient with primary carnitine deficiency and describes and describes the pathological features of primary carnitine deficiency. The clinical data of the patient with primary carnitine were retrieved. A histologic analysis was performed on the liver. The autopsy pathology showed diffuse lesions in the patient's liver, interstitial pneumonia, pulmonary hemorrhage, pulmonary emphysema, and hilar lymphadenitis. The clinical response was characterized by abnormal liver function, fatty stool, abnormal renal function presenting as hematuria, and clinical manifestations such as elevated creatine kinase in the heart. Therefore, this pathological examination provides morphological diagnostic data for patients with primary carnitine deficiency and for the diagnosis of the degree of disease in these patients.},
 year = {2019}
}

Copy | Download

TY  - JOUR
T1  - Analysis of Clinical and Pathological Features of a Case of Primary Carnitine Deficiency
AU  - Yanqing Kong
AU  - Xin Wei
AU  - Xueyu Chen
Y1  - 2019/01/21
PY  - 2019
N1  - https://doi.org/10.11648/j.ijcems.20190501.11
DO  - 10.11648/j.ijcems.20190501.11
T2  - International Journal of Clinical and Experimental Medical Sciences
JF  - International Journal of Clinical and Experimental Medical Sciences
JO  - International Journal of Clinical and Experimental Medical Sciences
SP  - 1
EP  - 4
PB  - Science Publishing Group
SN  - 2469-8032
UR  - https://doi.org/10.11648/j.ijcems.20190501.11
AB  - In recent years, with the application of tandem mass spectrometry, an increasing number of patients with primary carnitine deficiency have been diagnosed in China. Because it is mainly concentrated in cities with good conditions, there are few reports of this disease in China. At present, the existing reports have mainly focused on screening and there are no reports addressing the degree of lesions in patients with primary carnitine deficiency. This article reports an pathological diagnosis upon autopsy of a patient with primary carnitine deficiency and describes and describes the pathological features of primary carnitine deficiency. The clinical data of the patient with primary carnitine were retrieved. A histologic analysis was performed on the liver. The autopsy pathology showed diffuse lesions in the patient's liver, interstitial pneumonia, pulmonary hemorrhage, pulmonary emphysema, and hilar lymphadenitis. The clinical response was characterized by abnormal liver function, fatty stool, abnormal renal function presenting as hematuria, and clinical manifestations such as elevated creatine kinase in the heart. Therefore, this pathological examination provides morphological diagnostic data for patients with primary carnitine deficiency and for the diagnosis of the degree of disease in these patients.
VL  - 5
IS  - 1
ER  -

Copy | Download