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Pediatric Reports
Volume 10
Issue 2
10.4081/pr.2018.7705
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Case Report

A Case of Atypical Systemic Primary Carnitine Deficiency in Saudi Arabia

by
Abdulrahman Alghamdi
1,2,
Hani Almalki
1,2,
Aiman Shawli
1,2,3,
Rahaf Waggass
1,2,4 and
Fahad Hakami
1,2,5,*
1
King Abdullah International Medical Research Center, Jeddah, Saudi Arabia
2
King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia
3
Department of Pediatrics, Jeddah, Saudi Arabia
4
King Faisal Cardiac Center, Jeddah, Saudi Arabia
5
Molecular Medicine Section, Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City-WR, Jeddah, Saudi Arabia
*
Author to whom correspondence should be addressed.
Pediatr. Rep. 2018, 10(2), 7705; https://doi.org/10.4081/pr.2018.7705
Submission received: 9 April 2018 / Accepted: 24 June 2018 / Published: 27 June 2018

Abstract

Systemic primary carnitine deficiency (SPCD) is an autosomal recessive inborn error of fatty acid metabolism caused by a defect in the transporter responsible for moving carnitine across plasma membrane. The clinical features of SPCD vary widely based on the age of onset and organs involved. During infancy, patients might show episodes of hypoketotic hypoglycemia, hepatomegaly, elevated transaminases, and hyperammonemia. Skeletal myopathy, elevated creatine kinase, and cardiomyopathy are the main manifestations in children with SPCD, while in adults, the disorder is usually manifested as cardiomyopathy, arrhythmias, or fatigability. Here, we report a 5-year-old boy with SPCD that presented as dilated cardiomyopathy with atypical features, such as anemia, respiratory distress, and proximal muscle weakness. This report supports considering carnitine deficiency treatment in the work-up of unexplained pediatric dilated cardiomyopathy.
Keywords: Systemic Primary Carnitine Deficiency; SLC22A5; Dilated Cardiomyopathy; OCTN2 Systemic Primary Carnitine Deficiency; SLC22A5; Dilated Cardiomyopathy; OCTN2

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MDPI and ACS Style

Alghamdi, A.; Almalki, H.; Shawli, A.; Waggass, R.; Hakami, F. A Case of Atypical Systemic Primary Carnitine Deficiency in Saudi Arabia. Pediatr. Rep. 2018, 10, 7705. https://doi.org/10.4081/pr.2018.7705

AMA Style

Alghamdi A, Almalki H, Shawli A, Waggass R, Hakami F. A Case of Atypical Systemic Primary Carnitine Deficiency in Saudi Arabia. Pediatric Reports. 2018; 10(2):7705. https://doi.org/10.4081/pr.2018.7705

Chicago/Turabian Style

Alghamdi, Abdulrahman, Hani Almalki, Aiman Shawli, Rahaf Waggass, and Fahad Hakami. 2018. "A Case of Atypical Systemic Primary Carnitine Deficiency in Saudi Arabia" Pediatric Reports 10, no. 2: 7705. https://doi.org/10.4081/pr.2018.7705

APA Style

Alghamdi, A., Almalki, H., Shawli, A., Waggass, R., & Hakami, F. (2018). A Case of Atypical Systemic Primary Carnitine Deficiency in Saudi Arabia. Pediatric Reports, 10(2), 7705. https://doi.org/10.4081/pr.2018.7705

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