Cargando…

A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis

Mitochondrial trifunctional protein (TFP) is a multienzyme complex that catalyzes the last three steps of the β-oxidation cycle of long-chain fatty acids. In the prenatal diagnosis of TFP deficiency, acylcarnitine (AC) analysis has been considered difficult because of limited excretion of long-chain...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bo, Ryosuke, Hasegawa, Yuki, Yamada, Kenji, Kobayashi, Hironori, Taketani, Takeshi, Fukuda, Seiji, Yamaguchi, Seiji
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2015
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789351/ https://www.ncbi.nlm.nih.gov/pubmed/27014569 http://dx.doi.org/10.1016/j.ymgmr.2015.11.005

Ejemplares similares

A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth
por: Yamada, Kenji, et al.
Publicado: (2017)

Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers
por: Yamada, Kenji, et al.
Publicado: (2019)

Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype
por: Yamada, Kenji, et al.
Publicado: (2022)

Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby
por: Yamada, Kenji, et al.
Publicado: (2019)

A Simple Flow Injection Analysis–Tandem Mass Spectrometry Method to Reduce False Positives of C5-Acylcarnitines Due to Pivaloylcarnitine Using Reference Ions †
por: Hattori, Takanari, et al.
Publicado: (2022)

Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening
por: Bo, Ryosuke, et al.
Publicado: (2020)

Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening
por: Yamada, Kenji, et al.
Publicado: (2020)

Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan
por: Yamada, Kenji, et al.
Publicado: (2021)

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening
por: Shibata, Naoaki, et al.
Publicado: (2018)

Expansion microscopy with carboxylic trifunctional linkers: Expansion microscopy with carboxylic trifunctional linkers
por: Chen, Xuecheng, et al.
Publicado: (2022)

Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency
por: Nakama, Mina, et al.
Publicado: (2020)

Plasma acylcarnitine concentrations reflect the acylcarnitine profile in cardiac tissues
por: Makrecka-Kuka, Marina, et al.
Publicado: (2017)

Validation of Liquid Chromatography-Tandem Mass Spectrometry-Based 5-Plex Assay for Mucopolysaccharidoses
por: Oguni, Tsubasa, et al.
Publicado: (2020)

The significance of acylcarnitine ratio indices in diagnosing carnitine-acylcarnitine translocase deficiency
por: Shi, Congcong, et al.
Publicado: (2023)

Acylcarnitine ratio indices in diagnosing carnitine-acylcarnitine translocase deficiency in newborns
por: Tan, Yifei, et al.
Publicado: (2023)

Tumor Targeting, Trifunctional Dendritic Wedge
por: Dubey, Ramin, et al.
Publicado: (2014)

Newborn Screening for Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies Using Acylcarnitines Measurement in Dried Blood Spots—A Systematic Review of Test Accuracy
por: Stinton, Chris, et al.
Publicado: (2021)

Metabolic Impairment in Coronary Artery Disease: Elevated Serum Acylcarnitines Under the Spotlights
por: Gander, Joséphine, et al.
Publicado: (2021)

Survivin Selectively Modulates Genes Deregulated in Human Leukemia Stem Cells
por: Fukuda, Seiji, et al.
Publicado: (2011)

Synthesis of trifunctional cyclo-β-tripeptide templates
por: Stein, Frank, et al.
Publicado: (2012)

NMR Characterization of Long-Chain Fatty Acylcarnitine Binding to the Mitochondrial Carnitine/Acylcarnitine Carrier
por: Zhang, Ningning, et al.
Publicado: (2022)

Internal Tandem Duplication in FLT3 Attenuates Proliferation and Regulates Resistance to the FLT3 Inhibitor AC220 by Modulating p21(Cdkn1a) and Pbx1 in Hematopoietic Cells
por: Abe, Mariko, et al.
Publicado: (2016)

Amniotic Fluid Stem Cells for the Treatment of Surgical Disorders in the Fetus and Neonate
por: Kunisaki, Shaun M.
Publicado: (2018)

Acute osteomyelitis of the acetabulum induced by Staphylococcus capitis in a young athlete
por: Fukuda, Seiji, et al.
Publicado: (2010)

Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS
por: Stapleton, Molly, et al.
Publicado: (2020)

Intra‐amniotic mesenchymal stem cell therapy improves the amniotic fluid microenvironment in rat spina bifida aperta fetuses
por: Wei, Xiaowei, et al.
Publicado: (2022)

Reversible sensory neuropathy in mitochondrial trifunctional protein deficiency
por: Grünert, Sarah Catharina, et al.
Publicado: (2022)

Identification of Symptomatic Fetuses Infected with Cytomegalovirus Using Amniotic Fluid Peptide Biomarkers
por: Desveaux, Cyrille, et al.
Publicado: (2016)

Enhanced Acylcarnitine Annotation in High-Resolution Mass Spectrometry Data: Fragmentation Analysis for the Classification and Annotation of Acylcarnitines
por: van der Hooft, Justin J. J., et al.
Publicado: (2015)

Acylcarnitines: Reflecting or Inflicting Insulin Resistance?
por: Schooneman, Marieke G., et al.
Publicado: (2013)

Plasma acylcarnitines are associated with pulmonary hypertension
por: Luo, Nancy, et al.
Publicado: (2017)

Acylcarnitines: Can They Be Biomarkers of Diabetic Nephropathy?
por: Mu, Xiaodie, et al.
Publicado: (2022)

Acylcarnitines in Ophthalmology: Promising Emerging Biomarkers
por: Theodoridis, Konstantinos, et al.
Publicado: (2022)

Ultrasound measurement of umbilical venous flow volume at the intra-abdominal portion in normal fetuses
por: Ozawa, Katsusuke, et al.
Publicado: (2023)

Sex Differences in Protein Expression and Their Perturbations in Amniotic Fluid Cells of Down Syndrome Fetuses
por: Liu, Yanyan, et al.
Publicado: (2022)

Using Mitochondrial Trifunctional Protein Deficiency to Understand Maternal Health
por: Miklas, Jason W., et al.
Publicado: (2020)

Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency
por: Suyama, Tomonori, et al.
Publicado: (2020)

Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after l-carnitine supplementation
por: Watanabe, Kenji, et al.
Publicado: (2018)

Serum Levels of Acylcarnitines Are Altered in Prediabetic Conditions
por: Mai, Manuel, et al.
Publicado: (2013)

Sexual dimorphism in myocardial acylcarnitine and triglyceride metabolism
por: Devanathan, Sriram, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_q21lmjs7pm02tc39po8eg456ie