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...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	Galina V. Baydakova, Polina G. Tsygankova, Natalia L. Pechatnikova, Olga A. Bazhanova, Yana D. Nazarenko, Ekaterina Y. Zakharova
Формат:	Өгүүллэг
Хэл сонгох:	English
Хэвлэсэн:	MDPI AG 2023-08-01
Цуврал:	International Journal of Neonatal Screening
Нөхцлүүд:	biochemical marker inherited metabolic diseases acylcarnitines long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency <i>HADHA</i>
Онлайн хандалт:	https://www.mdpi.com/2409-515X/9/3/48

Ижил төстэй зүйлс

Management of pregnancy in a patient with long‐chain 3‐hydroxyacyl CoA dehydrogenase deficiency
-н: Loai A. Shakerdi, зэрэг
Хэвлэсэн: (2022-07-01)

Leptospiral 3-hydroxyacyl-CoA dehydrogenase as an early urinary biomarker of leptospirosis in a Sri Lankan setting – Interim results
-н: A. K. U. I. Karunadasa, зэрэг
Хэвлэсэн: (2021-12-01)

Ophthalmic Symptoms of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: A Report of Three Cases
-н: Natalia Lange, зэрэг
Хэвлэсэн: (2024-04-01)

Optical coherence tomography angiography of choroidal neovascularization in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
-н: Nida Wongchaisuwat, зэрэг
Хэвлэсэн: (2023-12-01)

Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis
-н: Donna B. Raval, зэрэг
Хэвлэсэн: (2017-03-01)

Progress of the effect of hydroxyacyl- coenzyme A dehydrogenase in cancer development and its mechanism
-н: WU Guojia, ZHAI Shujie, SUN Xiao, HUANG Yiran, LI Yongmei, SUN Li
Хэвлэсэн: (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
-н: Jariya Upadia, зэрэг
Хэвлэсэн: (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
-н: Ito Hidekazu, зэрэг
Хэвлэсэн: (2021-01-01)

Dynamics of acylcarnitines, hypoglycin A, méthylènecyclopropylglycine and their metabolites in a Kladruber stallion with atypical myopathy
-н: Petr Jahn, зэрэг
Хэвлэсэн: (2022-12-01)

From Africa to Antarctica: Exploring the Metabolism of Fish Heart Mitochondria Across a Wide Thermal Range
-н: Florence Hunter-Manseau, зэрэг
Хэвлэсэн: (2019-10-01)

Importance of acylcarnitine profile analysis for disorders of lipid metabolism in adolescent patients with recurrent rhabdomyolysis: Report of two cases
-н: Yasemin Topçu, зэрэг
Хэвлэсэн: (2014-01-01)

Actinobacterial Degradation of 2-Hydroxyisobutyric Acid Proceeds via Acetone and Formyl-CoA by Employing a Thiamine-Dependent Lyase Reaction
-н: Thore Rohwerder, зэрэг
Хэвлэсэн: (2020-04-01)

Simultaneous Down-Regulation of Dominant Cinnamoyl CoA Reductase and Cinnamyl Alcohol Dehydrogenase Dramatically Altered Lignin Content in Mulberry
-н: Shuai Huang, зэрэг
Хэвлэсэн: (2024-12-01)

Altered Acylcarnitine Metabolism Is Associated With an Increased Risk of Atrial Fibrillation
-н: Einar Smith, зэрэг
Хэвлэсэн: (2020-11-01)

Roles of cysteine residues in the inhibition of human glutamate dehydrogenase by palmitoyl-CoA
-н: Sung-Woo Cho
Хэвлэсэн: (2012-12-01)

Acute Fatty Liver of Pregnancy
-н: Pop Lucian Gheorghe, зэрэг
Хэвлэсэн: (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
-н: Go Tajima, зэрэг
Хэвлэсэн: (2024-02-01)

ALDH2 attenuates myocardial pyroptosis through breaking down Mitochondrion-NLRP3 inflammasome pathway in septic shock
-н: Ying Zhang, зэрэг
Хэвлэсэн: (2023-03-01)

Assessment of reference intervals of acylcarnitines in newborns in Siberia
-н: N. V. Nemchinova, зэрэг
Хэвлэсэн: (2022-12-01)

Acylcarnitines: Can They Be Biomarkers of Diabetic Nephropathy?
-н: Mu X, зэрэг
Хэвлэсэн: (2022-01-01)

Plasma acylcarnitine and diabetic retinopathy: A study from Eastern China
-н: Dongzhen Jin, зэрэг
Хэвлэсэн: (2022-10-01)

Function, Detection and Alteration of Acylcarnitine Metabolism in Hepatocellular Carcinoma
-н: Shangfu Li, зэрэг
Хэвлэсэн: (2019-02-01)

Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening
-н: Yiming Lin, зэрэг
Хэвлэсэн: (2019-08-01)

Enhanced acylcarnitine annotation in high-resolution mass spectrometry data: fragmentation analysis for the classification and annotation of acylcarnitines
-н: Justin J. J van der Hooft, зэрэг
Хэвлэсэн: (2015-03-01)

Metabolic Outcomes of Anaplerotic Dodecanedioic Acid Supplementation in Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficient Fibroblasts
-н: Igor Radzikh, зэрэг
Хэвлэсэн: (2021-08-01)

Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia
-н: S. Santra, зэрэг
Хэвлэсэн: (2017-03-01)

Exacerbation of myopathy triggered by antiobesity drugs in a patient with multiple acyl-CoA dehydrogenase deficiency
-н: Po-Yu Lin, зэрэг
Хэвлэсэн: (2021-02-01)

Acute Fatty Liver of PregnancyA Case Series from a Tertiary Hospital of Kolkata, India: A Case Series
-н: Madhulima Saha, зэрэг
Хэвлэсэн: (2023-12-01)

Dataset from dried blood spot acylcarnitine for detection of Carnitine-Acylcarnitine Translocase (CACT) deficiency and Carnitine Palmitoyl Transferase 2 (CPT2) deficiency
-н: Anasufiza Habib, зэрэг
Хэвлэсэн: (2023-06-01)

Low Fasting Concentrations of Glucagon in Patients with Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
-н: Rasmus Stenlid, зэрэг
Хэвлэсэн: (2023-06-01)

HADHA promotes ovarian cancer outgrowth via up-regulating CDK1
-н: Yinglan Liu, зэрэг
Хэвлэсэн: (2023-11-01)

Serum Acylcarnitines Associated with High Short-Term Mortality in Patients with Alcoholic Hepatitis
-н: Bei Gao, зэрэг
Хэвлэсэн: (2021-02-01)

Amino Acid and Acylcarnitine Levels in Chronic Patients with Schizophrenia: A Preliminary Study
-н: Irina A. Mednova, зэрэг
Хэвлэсэн: (2021-01-01)

MADD-like pattern of acylcarnitines associated with sertraline use
-н: Filippo Ingoglia, зэрэг
Хэвлэсэн: (2024-12-01)

Medium‐chain Acyl‐COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment
-н: Emily Mason, зэрэг
Хэвлэсэн: (2023-01-01)

The value of fasting in the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency
-н: Carmen R Vargas, зэрэг
Хэвлэсэн: (2020-05-01)

Paeonol represses A549 cell glycolytic reprogramming and proliferation by decreasing m6A modification of Acyl-CoA dehydrogenase
-н: Lixin Zhang, зэрэг
Хэвлэсэн: (2023-01-01)

Serum Acylcarnitines and Risk of Cardiovascular Death and Acute Myocardial Infarction in Patients With Stable Angina Pectoris
-н: Elin Strand, зэрэг
Хэвлэсэн: (2017-02-01)

Pathophysiological roles of the serum acylcarnitine level and acylcarnitine/free carnitine ratio in patients with cardiovascular diseases
-н: Takafumi Nakajima, зэрэг
Хэвлэсэн: (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
-н: Nassim Boutouchent, зэрэг
Хэвлэсэн: (2021-08-01)