Pharmacological rescue of carnitine transport in primary carnitine deficiency

2006 ◽  
Vol 27 (6) ◽  
pp. 513-523 ◽  
Author(s):  
Cristina Amat di San Filippo ◽  
Marzia Pasquali ◽  
Nicola Longo
Keyword(s):  
Carnitine Deficiency ◽  
Carnitine Transport ◽  
Primary Carnitine Deficiency

scholarly journals Deficient Muscle Carnitine Transport in Primary Carnitine Deficiency

1997 ◽  
Vol 42 (5) ◽  
pp. 583-587 ◽  
Author(s):  
Roser Pons ◽  
Rosalba Carrozzo ◽  
Ingrid Tein ◽  
Winsome F Walker ◽  
Linda J Addonizio ◽  
...  
Keyword(s):  
Carnitine Deficiency ◽  
Carnitine Transport ◽  
Primary Carnitine Deficiency

scholarly journals Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency

1998 ◽  
Vol 1 (1) ◽  
pp. 34-39 ◽  
Author(s):  
Fernando Scaglia ◽  
Yuhuan Wang ◽  
Rani H Singh ◽  
Philip P Dembure ◽  
Marzia Pasquali ◽  
...  
Keyword(s):  
Carnitine Deficiency ◽  
Carnitine Transport ◽  
Primary Carnitine Deficiency

scholarly journals Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle

2016 ◽  
Vol 68 (Suppl. 3) ◽  
pp. 5-9 ◽  
Author(s):  
Nicola Longo
Keyword(s):  
Newborn Screening ◽  
Carnitine Deficiency ◽  
The Body ◽  
Molecular Testing ◽  
Inner Mitochondrial Membrane ◽  
Inborn Errors ◽  
Irreversible Damage ◽  
Carnitine Transport ◽  
Patients At Risk ◽  
Primary Carnitine Deficiency

Carnitine is needed for transfer of long-chain fatty acids across the inner mitochondrial membrane for subsequent β-oxidation. Carnitine can be synthesized by the body and is also obtained in the diet through consumption of meat and dairy products. Defects in carnitine transport such as those caused by defective activity of the OCTN2 transporter encoded by the SLC22A5 gene result in primary carnitine deficiency, and newborn screening programmes can identify patients at risk for this condition before irreversible damage. Initial biochemical diagnosis can be confirmed through molecular testing, although direct study of carnitine transport in fibroblasts is very useful to confirm or exclude primary carnitine deficiency in individuals with genetic variations of unknown clinical significance or who continue to have low levels of carnitine despite negative molecular analyses. Genetic defects in carnitine biosynthesis do not generally result in low plasma levels of carnitine. However, deletion of the trimethyllysine hydroxylase gene, a key gene in carnitine biosynthesis, has been associated with non-dysmorphic autism. Thus, new roles for carnitine are emerging that are unrelated to classic inborn errors of metabolism.

Primary Carnitine Deficiency Due to a Failure of Carnitine Transport in Kidney, Muscle, and Fibroblasts

1988 ◽  
Vol 319 (20) ◽  
pp. 1331-1336 ◽  
Author(s):  
William R. Treem ◽  
Charles A. Stanley ◽  
David N. Finegold ◽  
Daniel E. Hale ◽  
Paul M. Coates
Keyword(s):  
Carnitine Deficiency ◽  
Carnitine Transport ◽  
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.

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