New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiencies are rare fatal disorders of fatty acid β-oxidation with no apparent genotype–phenotype correlation. The measurement of acylcarnitines by MS/MS is a current diagnostic workup in these disorde...

Mô tả đầy đủ

Chi tiết về thư mục
Những tác giả chính:	Galina V. Baydakova, Polina G. Tsygankova, Natalia L. Pechatnikova, Olga A. Bazhanova, Yana D. Nazarenko, Ekaterina Y. Zakharova
Định dạng:	Bài viết
Ngôn ngữ:	English
Được phát hành:	MDPI AG 2023-08-01
Loạt:	International Journal of Neonatal Screening
Những chủ đề:	biochemical marker inherited metabolic diseases acylcarnitines long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency <i>HADHA</i>
Truy cập trực tuyến:	https://www.mdpi.com/2409-515X/9/3/48

Những quyển sách tương tự

Management of pregnancy in a patient with long‐chain 3‐hydroxyacyl CoA dehydrogenase deficiency
Bằng: Loai A. Shakerdi, et al.
Được phát hành: (2022-07-01)

Leptospiral 3-hydroxyacyl-CoA dehydrogenase as an early urinary biomarker of leptospirosis in a Sri Lankan setting – Interim results
Bằng: A. K. U. I. Karunadasa, et al.
Được phát hành: (2021-12-01)

Ophthalmic Symptoms of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: A Report of Three Cases
Bằng: Natalia Lange, et al.
Được phát hành: (2024-04-01)

Optical coherence tomography angiography of choroidal neovascularization in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
Bằng: Nida Wongchaisuwat, et al.
Được phát hành: (2023-12-01)

Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis
Bằng: Donna B. Raval, et al.
Được phát hành: (2017-03-01)

Progress of the effect of hydroxyacyl- coenzyme A dehydrogenase in cancer development and its mechanism
Bằng: WU Guojia, ZHAI Shujie, SUN Xiao, HUANG Yiran, LI Yongmei, SUN Li
Được phát hành: (2024-01-01)

Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience
Bằng: Jariya Upadia, et al.
Được phát hành: (2023-12-01)

Successful perioperative management of a pediatric patient with medium-chain acyl-CoA dehydrogenase deficiency using a continuous tissue glucose monitoring device: A case report
Bằng: Ito Hidekazu, et al.
Được phát hành: (2021-01-01)

Dynamics of acylcarnitines, hypoglycin A, méthylènecyclopropylglycine and their metabolites in a Kladruber stallion with atypical myopathy
Bằng: Petr Jahn, et al.
Được phát hành: (2022-12-01)

From Africa to Antarctica: Exploring the Metabolism of Fish Heart Mitochondria Across a Wide Thermal Range
Bằng: Florence Hunter-Manseau, et al.
Được phát hành: (2019-10-01)

Importance of acylcarnitine profile analysis for disorders of lipid metabolism in adolescent patients with recurrent rhabdomyolysis: Report of two cases
Bằng: Yasemin Topçu, et al.
Được phát hành: (2014-01-01)

Actinobacterial Degradation of 2-Hydroxyisobutyric Acid Proceeds via Acetone and Formyl-CoA by Employing a Thiamine-Dependent Lyase Reaction
Bằng: Thore Rohwerder, et al.
Được phát hành: (2020-04-01)

Simultaneous Down-Regulation of Dominant Cinnamoyl CoA Reductase and Cinnamyl Alcohol Dehydrogenase Dramatically Altered Lignin Content in Mulberry
Bằng: Shuai Huang, et al.
Được phát hành: (2024-12-01)

Altered Acylcarnitine Metabolism Is Associated With an Increased Risk of Atrial Fibrillation
Bằng: Einar Smith, et al.
Được phát hành: (2020-11-01)

Roles of cysteine residues in the inhibition of human glutamate dehydrogenase by palmitoyl-CoA
Bằng: Sung-Woo Cho
Được phát hành: (2012-12-01)

Acute Fatty Liver of Pregnancy
Bằng: Pop Lucian Gheorghe, et al.
Được phát hành: (2020-03-01)

Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan
Bằng: Go Tajima, et al.
Được phát hành: (2024-02-01)

ALDH2 attenuates myocardial pyroptosis through breaking down Mitochondrion-NLRP3 inflammasome pathway in septic shock
Bằng: Ying Zhang, et al.
Được phát hành: (2023-03-01)

Assessment of reference intervals of acylcarnitines in newborns in Siberia
Bằng: N. V. Nemchinova, et al.
Được phát hành: (2022-12-01)

Acylcarnitines: Can They Be Biomarkers of Diabetic Nephropathy?
Bằng: Mu X, et al.
Được phát hành: (2022-01-01)

Plasma acylcarnitine and diabetic retinopathy: A study from Eastern China
Bằng: Dongzhen Jin, et al.
Được phát hành: (2022-10-01)

Function, Detection and Alteration of Acylcarnitine Metabolism in Hepatocellular Carcinoma
Bằng: Shangfu Li, et al.
Được phát hành: (2019-02-01)

Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening
Bằng: Yiming Lin, et al.
Được phát hành: (2019-08-01)

Enhanced acylcarnitine annotation in high-resolution mass spectrometry data: fragmentation analysis for the classification and annotation of acylcarnitines
Bằng: Justin J. J van der Hooft, et al.
Được phát hành: (2015-03-01)

Metabolic Outcomes of Anaplerotic Dodecanedioic Acid Supplementation in Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficient Fibroblasts
Bằng: Igor Radzikh, et al.
Được phát hành: (2021-08-01)

Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia
Bằng: S. Santra, et al.
Được phát hành: (2017-03-01)

Exacerbation of myopathy triggered by antiobesity drugs in a patient with multiple acyl-CoA dehydrogenase deficiency
Bằng: Po-Yu Lin, et al.
Được phát hành: (2021-02-01)

Acute Fatty Liver of PregnancyA Case Series from a Tertiary Hospital of Kolkata, India: A Case Series
Bằng: Madhulima Saha, et al.
Được phát hành: (2023-12-01)

Dataset from dried blood spot acylcarnitine for detection of Carnitine-Acylcarnitine Translocase (CACT) deficiency and Carnitine Palmitoyl Transferase 2 (CPT2) deficiency
Bằng: Anasufiza Habib, et al.
Được phát hành: (2023-06-01)

Low Fasting Concentrations of Glucagon in Patients with Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
Bằng: Rasmus Stenlid, et al.
Được phát hành: (2023-06-01)

HADHA promotes ovarian cancer outgrowth via up-regulating CDK1
Bằng: Yinglan Liu, et al.
Được phát hành: (2023-11-01)

Serum Acylcarnitines Associated with High Short-Term Mortality in Patients with Alcoholic Hepatitis
Bằng: Bei Gao, et al.
Được phát hành: (2021-02-01)

Amino Acid and Acylcarnitine Levels in Chronic Patients with Schizophrenia: A Preliminary Study
Bằng: Irina A. Mednova, et al.
Được phát hành: (2021-01-01)

MADD-like pattern of acylcarnitines associated with sertraline use
Bằng: Filippo Ingoglia, et al.
Được phát hành: (2024-12-01)

Medium‐chain Acyl‐COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment
Bằng: Emily Mason, et al.
Được phát hành: (2023-01-01)

The value of fasting in the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency
Bằng: Carmen R Vargas, et al.
Được phát hành: (2020-05-01)

Paeonol represses A549 cell glycolytic reprogramming and proliferation by decreasing m6A modification of Acyl-CoA dehydrogenase
Bằng: Lixin Zhang, et al.
Được phát hành: (2023-01-01)

Serum Acylcarnitines and Risk of Cardiovascular Death and Acute Myocardial Infarction in Patients With Stable Angina Pectoris
Bằng: Elin Strand, et al.
Được phát hành: (2017-02-01)

Pathophysiological roles of the serum acylcarnitine level and acylcarnitine/free carnitine ratio in patients with cardiovascular diseases
Bằng: Takafumi Nakajima, et al.
Được phát hành: (2024-04-01)

An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency
Bằng: Nassim Boutouchent, et al.
Được phát hành: (2021-08-01)