Cargando…

Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt

We discuss two adult siblings who presented with symptoms of myalgia and rhabdomyolysis following exercise with myoglobinuria; genetic testing confirmed carnitine palmitoyltransferase II deficiency and resulted in institution of appropriate crisis management and dietary advice. We explore the phenot...

Descripción completa

Detalles Bibliográficos
Autores principales:	Balasubramanian, M., Jenkins, T.M., Kirk, R.J., Nesbitt, I.M., Olpin, S.E., Hill, M., Gillett, G.T.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5938603/ https://www.ncbi.nlm.nih.gov/pubmed/29744303 http://dx.doi.org/10.1016/j.ymgmr.2018.02.008

Ejemplares similares

Response to Finsterer: CPT-II deficiency needs to be detected in army personnel
por: Balasubramanian, M., et al.
Publicado: (2018)

Severe rhabdomyolysis in homozygote carnitine palmitoyltransferase II deficiency
por: Schnedl, Wolfgang J., et al.
Publicado: (2020)

From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency
por: Marques, Cristina, et al.
Publicado: (2023)

Carnitine Palmitoyltransferase II Deficiency (CPT II) Followed By Rhabdomyolysis and Acute Kidney Injury
por: Gjorgjievski, Nikola, et al.
Publicado: (2018)

Repeated and progressive rhabdomyolysis due to a novel carnitine palmitoyltransferase II gene variant in an adult male: A case report
por: Shao, Lina, et al.
Publicado: (2019)

Carnitine palmitoyltransferase 2 deficiency, malignant hyperthermia and anesthesia
por: Glauber, Violeta, et al.
Publicado: (2014)

Stabilization of the thermolabile variant S113L of carnitine palmitoyltransferase II
por: Motlagh, Leila, et al.
Publicado: (2016)

Carnitine palmitoyltransferase 1C contributes to progressive cellular senescence
por: Wang, Yongtao, et al.
Publicado: (2020)

Carnitine Palmitoyltransferase 1A Has a Lysine Succinyltransferase Activity
por: Kurmi, Kiran, et al.
Publicado: (2018)

Carnitine Palmitoyltransferase 1 Regulates Prostate Cancer Growth under Hypoxia
por: Rios-Colon, Leslimar, et al.
Publicado: (2021)

PSUN63 Approach to hyperlipidemia management in Carnitine Palmitoyltransferase II deficiency
por: Anbari, Raghda A, et al.
Publicado: (2022)

Fatty acid oxidation and carnitine palmitoyltransferase I: emerging therapeutic targets in cancer
por: Qu, Q, et al.
Publicado: (2016)

Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach
por: Joshi, Pushpa Raj, et al.
Publicado: (2020)

Carnitine Palmitoyltransferase System: A New Target for Anti-Inflammatory and Anticancer Therapy?
por: Wang, Muyun, et al.
Publicado: (2021)

A Case of Carnitine Palmitoyltransferase II Deficiency in Bahrain With a Novel Mutation
por: Alsahlawi, Zahra, et al.
Publicado: (2022)

Evidence for an Association Between Infant Mortality and Homozygosity For the Arctic Variant of Carnitine Palmitoyltransferase 1A
por: Gessner, Bradford D., et al.
Publicado: (2016)

Inhibition of Carnitine Palmitoyltransferase-1 Activity Alleviates Insulin Resistance in Diet-Induced Obese Mice
por: Keung, Wendy, et al.
Publicado: (2013)

Abbreviated Half-Lives and Impaired Fuel Utilization in Carnitine Palmitoyltransferase II Variant Fibroblasts
por: Yao, Min, et al.
Publicado: (2015)

Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features
por: Lehmann, Diana, et al.
Publicado: (2017)

Carnitine Palmitoyltransferase 1 Increases Lipolysis, UCP1 Protein Expression and Mitochondrial Activity in Brown Adipocytes
por: Calderon-Dominguez, María, et al.
Publicado: (2016)

Carnitine Palmitoyltransferase 1b Deficiency Protects Mice from Diet-Induced Insulin Resistance
por: Kim, Teayoun, et al.
Publicado: (2014)

Isothermal titration calorimetry with micelles: Thermodynamics of inhibitor binding to carnitine palmitoyltransferase 2 membrane protein()
por: Perspicace, Samantha, et al.
Publicado: (2013)

Endogenous genetic risk factor for serious heatstroke: the thermolabile phenotype of carnitine palmitoyltransferase II variant
por: Oda, Jun, et al.
Publicado: (2018)

Normal FGF-21-Serum Levels in Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency
por: Motlagh Scholle, Leila, et al.
Publicado: (2019)

A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency
por: Ikeda, Naohiro, et al.
Publicado: (2017)

Identification and Characterization of Carnitine Palmitoyltransferase 1 (cpt 1) Genes in Nile Tilapia, Oreochromis niloticus
por: Bayır, Mehtap, et al.
Publicado: (2020)

Lipidomics reveals carnitine palmitoyltransferase 1C protects cancer cells from lipotoxicity and senescence
por: Zhang, Huizhen, et al.
Publicado: (2021)

Carnitine palmitoyltransferase 1A promotes mitochondrial fission by enhancing MFF succinylation in ovarian cancer
por: Zhu, Yaqin, et al.
Publicado: (2023)

Upregulating carnitine palmitoyltransferase 1 attenuates hyperoxia-induced endothelial cell dysfunction and persistent lung injury
por: Chang, Jason L., et al.
Publicado: (2022)

The impact of variance in carnitine palmitoyltransferase-1 expression on breast cancer prognosis is stratified by clinical and anthropometric factors
por: Liu, Ryan, et al.
Publicado: (2023)

Loss of carnitine palmitoyltransferase 1a reduces docosahexaenoic acid-containing phospholipids and drives sexually dimorphic liver disease in mice
por: Zelows, Mikala M., et al.
Publicado: (2023)

The Reversible Carnitine Palmitoyltransferase 1 Inhibitor (Teglicar) Ameliorates the Neurodegenerative Phenotype in a Drosophila Huntington’s Disease Model by Acting on the Expression of Carnitine-Related Genes
por: Bertapelle, Carla, et al.
Publicado: (2022)

Loss of Muscle Carnitine Palmitoyltransferase 2 Prevents Diet-Induced Obesity and Insulin Resistance despite Long-Chain Acylcarnitine Accumulation
por: Pereyra, Andrea S., et al.
Publicado: (2020)

Carnitine palmitoyltransferase gene upregulation by linoleic acid induces CD4(+) T cell apoptosis promoting HCC development
por: Brown, Zachary J., et al.
Publicado: (2018)

Apigenin Attenuates Acetaminophen-Induced Hepatotoxicity by Activating AMP-Activated Protein Kinase/Carnitine Palmitoyltransferase I Pathway
por: Zhang, Jiaqi, et al.
Publicado: (2020)

Carnitine palmitoyltransferase 1C negatively regulates the endocannabinoid hydrolase ABHD6 in mice, depending on nutritional status
por: Miralpeix, Cristina, et al.
Publicado: (2021)

Mitochondrial carnitine palmitoyltransferase-II dysfunction: A possible novel mechanism for nonalcoholic fatty liver disease in hepatocarcinogenesis
por: Yao, Min, et al.
Publicado: (2023)

Myopathic Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Rare Cause of Acute Kidney Injury and Cardiomyopathy
por: Castillo, Efrain, et al.
Publicado: (2023)

Carnitine palmitoyltransferase 1A functions to repress FoxO transcription factors to allow cell cycle progression in ovarian cancer
por: Shao, Huanjie, et al.
Publicado: (2015)

Bone scinitigraphy in rhabdomyolysis associated with carnitine palmitoyl transferase deficiency
por: Wong, Jonathan, et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_rlrhie7ognqukaf9m71aju6cq9