scholarly journals Clinical characteristics of primary carnitine deficiency ‐ a structured review using a case by case approach

2022 ◽  
Author(s):  
Loek L. Crefcoeur ◽  
Gepke Visser ◽  
Sacha Ferdinandusse ◽  
Frits A. Wijburg ◽  
Mirjam Langeveld ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Carnitine Deficiency ◽  
Primary Carnitine Deficiency

Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter

1996 ◽  
Vol 19 (3) ◽  
pp. 243-246 ◽  
Author(s):  
Michael J. Bennett ◽  
Daniel E. Hale ◽  
Rodney J. Pollitt ◽  
Sadick Variend ◽  
Charles A. Stanley
Keyword(s):  
Plasma Membrane ◽  
Carnitine Deficiency ◽  
Endocardial Fibroelastosis ◽  
Carnitine Transporter ◽  
Primary Carnitine Deficiency

scholarly journals Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation

2013 ◽  
Vol 34 (4) ◽  
pp. 655-655 ◽  
Author(s):  
Yi-Chen Chen ◽  
Yin-Hsiu Chien ◽  
Pin-Wen Chen ◽  
Nelson Leung-Sang Tang ◽  
Pao-Chin Chiu ◽  
...  
Keyword(s):  
Carnitine Deficiency ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Primary Carnitine Deficiency ◽  
Carnitine Uptake

3-Methylglutaconic aciduria in carriers of primary carnitine deficiency

2021 ◽  
pp. 104365
Author(s):  
Catherine A. Ziats ◽  
William B. Burns ◽  
Matt L. Tedder ◽  
Laura Pollard ◽  
Tim Wood ◽  
...  
Keyword(s):  
Carnitine Deficiency ◽  
Primary Carnitine Deficiency ◽  
Methylglutaconic Aciduria

scholarly journals A case of atypical systemic primary carnitine deficiency in Saudi Arabia

2018 ◽  
Vol 10 (2) ◽  
Author(s):  
Abdulrahman Alghamdi ◽  
Hani Almalki ◽  
Aiman Shawli ◽  
Rahaf Waggass ◽  
Fahad Hakami
Keyword(s):  
Dilated Cardiomyopathy ◽  
Autosomal Recessive ◽  
Acid Metabolism ◽  
Age Of Onset ◽  
Carnitine Deficiency ◽  
Proximal Muscle ◽  
Skeletal Myopathy ◽  
Primary Carnitine Deficiency ◽  
Elevated Transaminases ◽  
Work Up

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.

Primary carnitine deficiency: adult onset lipid storage myopathy with a mild clinical course

2004 ◽  
Vol 11 (8) ◽  
pp. 919-924 ◽  
Author(s):  
S. Vielhaber ◽  
H. Feistner ◽  
J. Weis ◽  
J. Kreuder ◽  
M. Sailer ◽  
...  
Keyword(s):  
Clinical Course ◽  
Carnitine Deficiency ◽  
Lipid Storage ◽  
Adult Onset ◽  
Lipid Storage Myopathy ◽  
Primary Carnitine Deficiency

scholarly journals Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects

2009 ◽  
Vol 12 (1) ◽  
pp. 19-24 ◽  
Author(s):  
Ayman W El-Hattab ◽  
Fang-Yuan Li ◽  
Joseph Shen ◽  
Berkley R Powell ◽  
Erawati V Bawle ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Carnitine Deficiency ◽  
Primary Carnitine Deficiency ◽  
Molecular Aspects

scholarly journals Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report

2011 ◽  
pp. 87-90 ◽  
Author(s):  
Irene De Biase ◽  
Neena Lorenzana Champaigne ◽  
Richard Schroer ◽  
Laura Malinda Pollard ◽  
Nicola Longo ◽  
...  
Keyword(s):  
Case Report ◽  
Long Qt Syndrome ◽  
Carnitine Deficiency ◽  
Long Qt ◽  
Qt Syndrome ◽  
Primary Carnitine Deficiency

Primary carnitine deficiency as a cause of metabolic leukoencephalopathy: Report of one case

2016 ◽  
Vol 64 (1) ◽  
pp. 166 ◽  
Author(s):  
RohanR Mahale ◽  
Anish Mehta ◽  
A Timmappaya ◽  
Rangasetty Srinivasa
Keyword(s):  
Carnitine Deficiency ◽  
Primary Carnitine Deficiency
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