Results 11 to 20 of about 100,000 (276)

Maternal Primary Carnitine Deficiency and a Novel Solute Carrier Family 22 Member 5 (SLC22A5) Mutation [PDF]

Journal of Investigative Medicine High Impact Case Reports, 2021
Primary carnitine deficiency (PCD) is a rare autosomal recessive disorder caused by loss of function mutations in the solute carrier family 22 member 5 ( SLC22A5 ) gene that encodes a high-affinity sodium-ion–dependent organic cation transporter protein (
Michael Jakoby MD, MA, Amruta Jaju MD, Aundrea Marsh BS, Andrew Wilber PhD   +3 more
doaj   +4 more sources

A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child [PDF]

Orphanet Journal of Rare Diseases, 2023
Background Primary carnitine deficiency is an inborn error of metabolism, which can lead to life-threating complications early in life. Low carnitine levels can be detected by newborn bloodspot screening (NBS).
Lieke M. van den Heuvel, Adriana Kater-Kuipers, Tessa van Dijk, Loek L. Crefcoeur, Gepke Visser, Mirjam Langeveld, Lidewij Henneman   +6 more
doaj   +3 more sources

Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening. [PDF]

Front Genet, 2023
Primary carnitine deficiency (PCD) caused by pathogenic variants in the solute carrier family 22 member 5 (SLC22A5) gene is a rare autosomal recessive disease that results in defective fatty acid oxidation.
Ji X, Ge Y, Ni Q, Xu S, Xiong Z, Yang L, Hu L, Cao Y, Lu Y, Wei Q, Kang W, Zhuang D, Zhou W, Dong X.   +13 more
europepmc   +4 more sources

Primary carnitine deficiency – diagnosis after heart transplantation: better late than never! [PDF]

Orphanet Journal of Rare Diseases, 2020
Background Primary carnitine deficiency due to mutations in the SLC22A5 gene is a rare but well-treatable metabolic disorder that puts patients at risk for metabolic decompensations, skeletal and cardiac myopathy and sudden cardiac death.
Sarah C. Grünert, Sara Tucci, Anke Schumann, Meike Schwendt, Gwendolyn Gramer, Georg F. Hoffmann, Michelle Erbel, Brigitte Stiller, Ute Spiekerkoetter   +8 more
doaj   +6 more sources

Left ventricular noncompaction cardiomyopathy and short QT syndrome due to primary carnitine deficiency [PDF]

Annals of Noninvasive Electrocardiology, 2023
We report the case of a 13‐year‐old female patient presenting with presyncope and palpitations. Her electrocardiogram revealed an abbreviation of the rate‐corrected QT interval with imaging showing significant left ventricular dysfunction.
Oliver P. Hanington, Catherine Armstrong, Germaine Pierre, Graham Stuart, Jules C. Hancox   +4 more
doaj   +3 more sources

General anesthesia with cisatracurium and sevoflurane for a patient with primary carnitine deficiency receiving L-carnitine therapy: A case report. [PDF]

Medicine (Baltimore), 2021
Rationale: Lipid storage myopathies (LSMs) are a series of genetic disorders of lipid metabolism predominantly affecting muscle. The low incidence and lethal properties of this disease make anesthesia experience limited in such patients.
Ai L, Fang Y.
europepmc   +3 more sources

Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns [PDF]

JIMD Reports, 2023
In the Netherlands, newborns are referred by the newborn screening (NBS) Program when a low free carnitine (C0) concentration (
Loek L. Crefcoeur, M. Rebecca Heiner‐Fokkema, Rose E. Maase, Gepke Visser, Monique G. M. deSain‐van der Velden   +4 more
doaj   +3 more sources

Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France. [PDF]

Int J Neonatal Screen, 2023
Primary Carnitine Deficiency (PCD) is a fatty acid oxidation disorder that will be included in the expansion of the French newborn screening (NBS) program at the beginning of 2023.
Lefèvre CR, Labarthe F, Dufour D, Moreau C, Faoucher M, Rollier P, Arnoux JB, Tardieu M, Damaj L, Bendavid C, Dessein AF, Acquaviva-Bourdain C, Cheillan D.   +12 more
europepmc   +4 more sources

Assessment and Application of Acylcarnitines Summations as Auxiliary Quantization Indicator for Primary Carnitine Deficiency. [PDF]

Int J Neonatal Screen
Background: Newborns are referred primary carnitine deficiency (PCD) when a low free carnitine (C0) concentration (
Zhi H, Chang S, Chen T, Liang L, Qiu W, Zhang H, Gu X, Han L.   +7 more
europepmc   +4 more sources

Systemic Primary Carnitine Deficiency Presenting With Substantia Nigra and Basal Ganglia Injury: A Case Report. [PDF]

JIMD Rep
Systemic primary carnitine deficiency (SPCD) is a rare congenital fatty acid metabolism disorder causing impaired β‐oxidation and energy production, leading to hypoglycemia, metabolic encephalopathy, and sudden death.
Saito T, Soma K, Kashisaka M, Iketani K, Matsumoto M, Ueda T, Nishiyama M, Maruyama A, Nakai R, Sakihama H, Kurosawa H, Morisada N, Kobayashi H, Ozaki K.   +13 more
europepmc   +4 more sources