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...

Full description

Bibliographic Details
Main Authors:	Galina V. Baydakova, Polina G. Tsygankova, Natalia L. Pechatnikova, Olga A. Bazhanova, Yana D. Nazarenko, Ekaterina Y. Zakharova
Format:	Article
Language:	English
Published:	MDPI AG 2023-08-01
Series:	International Journal of Neonatal Screening
Subjects:	biochemical marker inherited metabolic diseases acylcarnitines long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency <i>HADHA</i>
Online Access:	https://www.mdpi.com/2409-515X/9/3/48

Similar Items

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

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

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

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

Fatal COVID‐19 infection in a patient with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: A case report
by: Parith Wongkittichote, et al.
Published: (2020-11-01)

Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism
by: Wei Zhang, et al.
Published: (2021-11-01)

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

A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis
by: Ryosuke Bo, et al.
Published: (2016-03-01)

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

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

Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases
by: Patricia Alcaide, et al.
Published: (2022-05-01)

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

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

Molecular Basis for Converting (2S)-Methylsuccinyl-CoA Dehydrogenase into an Oxidase
by: Simon Burgener, et al.
Published: (2017-12-01)

Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil
by: Dévora N. Randon, et al.
Published: (2020-07-01)

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

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

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

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
by: Go Tajima, et al.
Published: (2024-02-01)

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

Acute Fatty Liver of Pregnancy
by: Pop Lucian Gheorghe, et al.
Published: (2020-03-01)

Assessment of reference intervals of acylcarnitines in newborns in Siberia
by: N. V. Nemchinova, et al.
Published: (2022-12-01)

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada
by: Maria D. Karaceper, et al.
Published: (2019-03-01)

Acylcarnitines in Ophthalmology: Promising Emerging Biomarkers
by: Konstantinos Theodoridis, et al.
Published: (2022-12-01)

Acylcarnitines: Can They Be Biomarkers of Diabetic Nephropathy?
by: Mu X, et al.
Published: (2022-01-01)

Plasma acylcarnitine and diabetic retinopathy: A study from Eastern China
by: Dongzhen Jin, et al.
Published: (2022-10-01)

Function, Detection and Alteration of Acylcarnitine Metabolism in Hepatocellular Carcinoma
by: Shangfu Li, et al.
Published: (2019-02-01)

Decreased Fatty Acid Oxidation Gene Expression in Pre-Eclampsia According to the Onset and Presence of Intrauterine Growth Restriction
by: Alejandra Abascal-Saiz, et al.
Published: (2023-09-01)

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

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

Reversible sensory neuropathy in mitochondrial trifunctional protein deficiency
by: Sarah Catharina Grünert, et al.
Published: (2022-05-01)

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

Identification and Phenotypic Characterization of ZEBRA LEAF16 Encoding a β-Hydroxyacyl-ACP Dehydratase in Rice
by: Ziwen Liu, et al.
Published: (2018-06-01)

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

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

HADHA promotes ovarian cancer outgrowth via up-regulating CDK1
by: Yinglan Liu, et al.
Published: (2023-11-01)

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

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