Results 1 to 10 of about 2,687 (100)

Lactate and pyruvate as inborn errors of metabolism screening markers and their analytical challenges—a review

Discover Applied Sciences
This comprehensive review emphasizes the significance of lactate, pyruvate, and its ratio in the initial screening of Inborn errors of Metabolism. Inborn errors of metabolism (IEM) is a heterogeneous group of disorders resulting in metabolic dysfunction ...
Shambhavi Shetye, Ajeetkumar Patil, Varashree B. Suryakanth, Ramesh Y. Bhat, Saritha U. Kamath   +4 more
doaj   +3 more sources

Amino Acid Profile and Lactate Pyruvate Ratio: Potential Adjunct Markers for Differentiating Inborn Errors of Metabolism [PDF]

Indian Journal of Clinical Biochemistry, 2019
Inborn errors of metabolism (IEM) lead to the physical and mental disability and death of infants, which can be prevented if treated early. Hence it is imperative in diagnosing these disorders at the earliest. The study is planned to differentiate suspected IEM by quantifying the lactate-pyruvate ratio (L/P ratio), Amino acid profiling by HPLC in ...
Pragna Rao, Prajna P Shetty, Nagendra K   +2 more
exaly   +3 more sources

Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency

Molecular Genetics and Metabolism Reports, 2023
The pyruvate dehydrogenase complex serves as the main connection between cytosolic glycolysis and the tricarboxylic acid cycle within mitochondria. An infant with pyruvate dehydrogenase complex deficiency was treated with vitamin B1 supplementation and a
Eri Ogawa, Takako Hishiki, Noriyo Hayakawa, Hisato Suzuki, Kenjiro Kosaki, Makoto Suematsu, Toshiki Takenouchi   +6 more
doaj   +1 more source

Deuterium metabolic imaging and hyperpolarized 13C-MRI of the normal human brain at clinical field strength reveals differential cerebral metabolism

NeuroImage, 2022
Deuterium metabolic imaging (DMI) and hyperpolarized 13C-pyruvate MRI (13C-HPMRI) are two emerging methods for non-invasive and non-ionizing imaging of tissue metabolism. Imaging cerebral metabolism has potential applications in cancer, neurodegeneration,
Joshua D Kaggie, Alixander S Khan, Tomasz Matys, Rolf F Schulte, Matthew J Locke, Ashley Grimmer, Amy Frary, Ines Horvat Menih, Elizabeth Latimer, Martin J Graves, Mary A McLean, Ferdia A Gallagher   +11 more
doaj   +1 more source

Frequency inborn error of mitochondrial function in Mosul and Kurdistan region

Iraqi Journal of Pharmaceutical Sciences, 2020
This work aimed to estimate the frequency of mitochondrial inborn errors of metabolism (MIEMs) in patients presenting with family history and IEM-picture who referred for advance IEM assay in Mosul province and Kurdistan region.
Ashwaq N. Abbas, Mwafak K. Hasan, Muhammad A. Ahmed   +2 more
doaj   +3 more sources

Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism

Molecular Genetics & Genomic Medicine, 2023
AbstractBackgroundPyruvate dehydrogenase complex deficiency (PDCD) is a mitochondrial neurometabolic disorder of energy deficit, with incidence of about 1 in 42,000 live births annually in the USA. The median and mean ages of diagnosis of PDCD are about 12 and 31 months, respectively.
Anisha Verma, April N. Lehman, Hatice Gokcan, Lorna Cropcho, Danielle Black, Steven F. Dobrowolski, Jerry Vockley, Jirair K. Bedoyan   +7 more
openaire   +2 more sources

A liver-specific defect of Acyl-CoA degradation produces hyperammonemia, hypoglycemia and a distinct hepatic Acyl-CoA pattern. [PDF]

PLoS ONE, 2013
Most conditions detected by expanded newborn screening result from deficiency of one of the enzymes that degrade acyl-coenzyme A (CoA) esters in mitochondria.
Nicolas Gauthier, Jiang Wei Wu, Shu Pei Wang, Pierre Allard, Orval A Mamer, Lawrence Sweetman, Ann B Moser, Lisa Kratz, Fernando Alvarez, Yves Robitaille, François Lépine, Grant A Mitchell   +11 more
doaj   +1 more source

Ketogenic Diet: An Early Option for Epilepsy Treatment, Instead of A Last Choice Only

Biomedical Journal, 2012
Ketogenic diet (KD) was usually tried as a last resort in the treatment of intractable epilepsy after failure of many antiepileptics and even epilepsy surgery. Glucose transporter-1 deficiency and pyruvate dehydrogenase deficiency must be treated with KD
Huei-Shyong Wang, Kuang-Lin Lin
doaj   +1 more source

Long-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency

Molecular Genetics and Metabolism Reports
Several disorders of energy metabolism have been treated with exogenous ketone bodies. The benefit of this treatment is best documented in multiple acyl-CoA dehydrogenase deficiency (MADD) (MIM#231680).
Andrew A.M. Morris, Bernard Cuenoud, Philippe Delerive, Helen Mundy, Bernd C. Schwahn   +4 more
doaj   +1 more source

Animal models of pyruvate dehydrogenase complex deficiency: insight into mechanisms of cerebral abnormalities and tissue-specific role in metabolism

Frontiers in Medicine
Primary pyruvate dehydrogenase complex (PDC) deficiency results from inborn errors in the genes encoding its component proteins with largely devastating outcomes.
Mulchand S. Patel, Todd C. Rideout
doaj   +1 more source