Results 11 to 20 of about 954 (132)

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias. [PDF]

Clin Genet
This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Yin K, Qi Q.
europepmc   +2 more sources

Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): A Case Report With a Complex Biochemical Profile. [PDF]

JIMD Rep
ABSTRACT Three clinical entities of multiple acyl‐CoA dehydrogenase deficiency (MADD, OMIM#231680) can be differentiated: two severe neonatal forms and one later‐onset form that can manifest in adulthood. The latter typically presents with muscle‐related symptoms, such as exercise intolerance and muscle weakness, with an increase in all chain‐length ...
Penicaud R, Ferron JB, Valette X, Bauduin P, Faisant M, Schiff M, Nguyen A, Fontaine F, Allouche S.   +8 more
europepmc   +2 more sources

Research Communication: Serum Metabolomic Signatures Predict Tumour Recurrence After Resection or Ablation in Patients With Early-Stage Hepatocellular Carcinoma. [PDF]

Aliment Pharmacol Ther
Serum metabolites may guide post‐treatment risk stratification for HCC recurrence. ABSTRACT Patients with hepatocellular carcinoma (HCC) often experience recurrence after curative therapies, underscoring a need for risk stratification models. We validated 6 and 13‐metabolite signatures in patients who achieved complete response following surgical ...
Arvind A, Kanzaki H, Ahmed F, Fujiwara N, Hoshida Y, Singal AG.   +5 more
europepmc   +2 more sources

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families

International Journal of Neonatal Screening, 2021
Glutaric aciduria type I (GA-1) is a rare autosomal-recessive disorder of the degradation of the amino acids lysine and tryptophan caused by mutations of the GCDH gene encoding glutaryl-CoA-dehydrogenase.
Johannes Spenger, Esther M. Maier, Katharina Wechselberger, Florian Bauder, Melanie Kocher, Wolfgang Sperl, Martin Preisel, Katharina A. Schiergens, Vassiliki Konstantopoulou, Wulf Röschinger, Johannes Häberle, Thomas Schmitt-Mechelke, Saskia B. Wortmann, Ralph Fingerhut   +13 more
doaj   +1 more source

Microencephaly in macrocephaly: Rare report of two siblings with glutaric aciduria type 1

Annals of Movement Disorders, 2021
Glutaric aciduria type 1 is an autosomal recessive disorder caused by mutations in GCDH gene on chromosome 19 leading to the deficiency of glutaryl-CoA dehydrogenase which causes an abnormal metabolism of lysine, hydroxylysine and tryptophan with ...
Ayush Agarwal, Divyani Garg, Sangeeta Agarwal   +2 more
doaj   +1 more source

The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

JIMD Reports, 2021
Background Glutaric acidemia type I (GA1) is an organic acidemia that is often unrecognized in the newborn period until patients suffer an acute encephalopathic crisis, which can be mistaken for nonaccidental trauma.
Adam J. Guenzel, Patricia L. Hall, Anna I. Scott, Christina Lam, Irene J. Chang, Jenny Thies, Carlos R. Ferreira, Pavel Pichurin, William Laxen, Kimiyo Raymond, Dimitar K. Gavrilov, Devin Oglesbee, Piero Rinaldo, Dietrich Matern, Silvia Tortorelli   +14 more
doaj   +1 more source

Metabolomics of Cerebrospinal Fluid from Healthy Subjects Reveal Metabolites Associated with Ageing

Metabolites, 2021
To increase our understanding of age-related diseases affecting the central nervous system (CNS) it is important to understand the molecular processes of biological ageing.
Henrik Carlsson, Niclas Rollborn, Stephanie Herman, Eva Freyhult, Anders Svenningsson, Joachim Burman, Kim Kultima   +6 more
doaj   +1 more source

Selective, Accurate, and Precise Quantitation of Glutarylcarnitine in Human Urine from a Patient with Glutaric Acidemia Type I [PDF]

The Journal of Applied Laboratory Medicine, 2017
Abstract Background Although correctly used in expanded newborn screening programs to identify patients with possible diseases, flow-injection tandem mass spectrometry (MS/MS) acylcarnitine “profiles” are inadequate for standard clinical uses owing to their limited quantitative accuracy and lack of ...
Paul E, Minkler, Maria S K, Stoll, Stephen T, Ingalls, Charles L, Hoppel   +3 more
openaire   +2 more sources

Clinical and Metabolic Profile of Glutaric Aciduria Type 1 from North India: Tertiary Centre Experience [PDF]

Journal of Clinical and Diagnostic Research, 2017
Introduction: Glutaric aciduria type 1 is caused by deficiency of glutaryl-CoA dehydogenase leading to accumulation of glutarylcarnitine in blood and excretion of glutaric acid, 3-hyroxyglutaric acid and glutaconic acid in urine.
Ankur Singh, Rajniti Prasad, Seema Kapoor, Om Prakash Mishra   +3 more
doaj   +1 more source

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision [PDF]

, 2022
Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location: 19p13.13), resulting in deficiency of mitochondrial glutaryl-CoA dehydrogenase (GCDH) and ...
Ballhausen, Diana, Baumgartner, Matthias R, Beblo, Skadi, Boy, Nikolas, Burgard, Peter, Chapman, Kimberly A, Dobbelaere, Dries, et al, Fleissner, Sandra, Grohmann‐Held, Karina, Hahn, Gabriele, Harting, Inga, Heringer‐Seifert, Jana, Hoffmann, Georg F, Jochum, Frank, Karall, Daniela, Konstantopoulous, Vassiliki, Krawinkel, Michael B, Lindner, Martin, Maier, Esther M, Märtner, E M Charlotte, Mühlhausen, Chris, Nuoffer, Jean‐Marc, Okun, Jürgen G, Plecko, Barbara, Posset, Roland, Sahm, Katja, Scholl‐Bürgi, Sabine, Thimm, Eva, Walter, Magdalena, Williams, Monique   +30 more
core   +1 more source