Results 41 to 50 of about 100,000 (276)

A case of atypical systemic primary carnitine deficiency in Saudi Arabia [PDF]

Pediatric Reports, 2018
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
Abdulrahman Alghamdi, Hani Almalki, Aiman Shawli, Rahaf Waggass, Fahad Hakami   +4 more
doaj   +2 more sources

Primary carnitine deficiency and cardiomyopathy. [PDF]

Korean Circ J, 2013
Carnitine is essential for the transfer of long-chain fatty acids from the cytosol into mitochondria for subsequent β-oxidation. A lack of carnitine results in impaired energy production from long-chain fatty acids, especially during periods of fasting or stress.
Fu L, Huang M, Chen S.
europepmc   +4 more sources

Newborn screening for primary carnitine deficiency [PDF]

, 2023
Primary carnitine deficiency (PCD) is an inherited error of metabolism which results in severely decreased blood carnitine levels caused by a poorly functioning carnitine transport protein (OCTN2). Low blood carnitine levels may cause low blood sugar or cardiac issues, which may be fatal. Treatment consists of carnitine suppletion.
Loek Lennard Crefcoeur
openalex   +3 more sources

Genotype-phenotype correlation in primary carnitine deficiency [PDF]

Human Mutation, 2011
Primary carnitine deficiency is caused by defective OCTN2 carnitine transporters encoded by the SLC22A5 gene. Lack of carnitine impairs fatty acid oxidation resulting in hypoketotic hypoglycemia, hepatic encephalopathy, skeletal and cardiac myopathy.
Emily Rose, Cristina Amat Di San Filippo, Uzochi Chimdinma Ndukwe Erlingsson, Orly Ardon, Marzia Pasquali, Nicola Longo   +5 more
openalex   +4 more sources

Mutations of OCTN2, an Organic Cation/Carnitine Transporter, Lead to Deficient Cellular Carnitine Uptake in Primary Carnitine Deficiency [PDF]

Human Molecular Genetics, 1999
Systemic primary carnitine deficiency (CDSP, OMIM 212140) is an autosomal recessive disease characterized by low serum and intracellular concentrations of carnitine. CDSP may present with acute metabolic derangement simulating Reye's syndrome within the first 2 years of life.
Nelson L.S. Tang, Vadivel Ganapathy, Xiang Wu, Joannie Hui, Pankaj Seth, Patrick Man Pan Yuen, T. F. Fok, N. M. Hjelm   +7 more
openalex   +3 more sources

Phenotype and genotype variation in primary carnitine deficiency [PDF]

Genetics in Medicine, 2001
Primary carnitine deficiency is an autosomal recessive disorder of fatty acid oxidation resulting from defective carnitine transport. This disease is caused by mutations in the carnitine transporter gene SLC22A5. The objective of this study was to extend mutational analysis to four additional families with this disorder and determine whether recurrent ...
Yuhuan Wang, Stanley H. Korman, Jing Ye, J. Jay Gargus, Alisa Gutman, Franco Taroni, Barbara Garavaglia, Nicola Longo   +7 more
openalex   +5 more sources

Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn [PDF]

BMC Pediatrics, 2020
Background Primary carnitine deficiency (PCD) is an autosomal recessive disorder affecting the carnitine cycle and resulting in defective fatty acid oxidation.
Yiming Lin, Weihua Lin, Yanru Chen, Chunmei Lin, Zhenzhu Zheng, Jianlong Zhuang, Qingliu Fu   +6 more
doaj   +2 more sources

Dilated Cardiomyopathy (DCM) in an Infant Due to Primary Carnitine Deficiency (PCD); A Rare Case

Journal of Pharmaceutical Research International, 2021
Dilated cardiomyopathy (DCM) is known to have ventricular dilatation and dysfunction in  myocardium. Primary carnitine deficiency (PCD) is a not common but a reversible autosomal recessive phenomenon with supplementation of carnitine.
Varsha P. Gajbhiye, S. Patil, S. Gaikwad, Sushma Myadam   +3 more
semanticscholar   +3 more sources

Functional and molecular studies in primary carnitine deficiency. [PDF]

Hum Mutat, 2017
Primary carnitine deficiency is caused by a defect in the OCTN2 carnitine transporter encoded by the SLC22A5 gene. It can cause hypoketotic hypoglycemia or cardiomyopathy in children, and sudden death in children and adults. Fibroblasts from affected patients have reduced carnitine transport.
Frigeni M, Balakrishnan B, Yin X, Calderon FRO, Mao R, Pasquali M, Longo N.   +6 more
europepmc   +4 more sources

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management [PDF]

Orphanet Journal of Rare Diseases, 2012
Systemic primary carnitine deficiency (CDSP) is an autosomal recessive disorder of carnitine transportation. The clinical manifestations of CDSP can vary widely with respect to age of onset, organ involvement, and severity of symptoms, but are typically ...
Magoulas Pilar L, El-Hattab Ayman W
doaj   +2 more sources