Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: lysine and tryptophan …

P Wongkittichote, C Pantano, E Bogush… - Molecular Genetics and …, 2023 - Elsevier
Iron‑sulfur clusters (Fesingle bond S) are one of the most primitive and ubiquitous cofactors
used by various enzymes in multiple pathways. Biosynthesis of Fe single bond S is a …

Genetic aetiologies of acute liver failure

R Hegarty, RJ Thompson - Journal of Inherited Metabolic …, 2024 - Wiley Online Library
Acute liver failure (ALF) is a rare, rapidly evolving, clinical syndrome with devastating
consequences where definitive treatment is by emergency liver transplantation. Establishing …

The natural history of dihydrolipoamide dehydrogenase deficiency in Israel

B Pode‐Shakked, YE Landau… - Journal of Inherited …, 2024 - Wiley Online Library
Dihydrolipoamide dehydrogenase (DLD) deficiency is an ultra‐rare autosomal‐recessive
inborn error of metabolism, affecting no less than five mitochondrial multienzyme complexes …

Metabolomic and Physiological Effects of a Cardiorenal Protective Diet Intervention in African American Adults with Chronic Kidney Disease

MJ Patel, C Emerenini, X Wang, T Bottiglieri, H Kitzman - Metabolites, 2024 - mdpi.com
Chronic kidney disease (CKD) impacts 14% of adults in the United States, and African
American (AA) individuals are disproportionately affected, with more than 3 times higher risk …

Clinical, biochemical and molecular characterization of a new case with FDX2‐related mitochondrial disorder: Potential biomarkers and treatment options

P Wongkittichote, C Pantano, M He, X Hong… - JIMD …, 2024 - Wiley Online Library
Abstract Ferredoxin‐2 (FDX2) is an electron transport protein required for iron–sulfur
clusters biosynthesis. Pathogenic variants in FDX2 have been associated with autosomal …

Mitochondrial Alpha-Keto Acid Dehydrogenase Complexes: Recent Developments on Structure and Function in Health and Disease

E Szabo, B Nagy, A Czajlik, T Komlodi… - … Protein Complexes V …, 2024 - Springer
The present work delves into the enigmatic world of mitochondrial alpha-keto acid
dehydrogenase complexes discussing their metabolic significance, enzymatic operation …

Dihydrolipoamide dehydrogenase deficiency in five siblings with variable phenotypes, including fulminant fatal liver failure despite good engraftment of transplanted …

M Mihaljević, D Petković Ramadža, T Žigman, I Rako… - JIMD Reports - Wiley Online Library
Dihydrolipoamide dehydrogenase (DLD) deficiency can, in one of its forms, be a rare cause
of acute liver failure. Clinical presentation is nonspecific. Biochemical findings can reflect …

The Molecular Basis of Maple Syrup Urine Disease

C Jensen - 2024 - digitalcommons.liberty.edu
Maple syrup urine disease (MSUD) is a rare metabolic disorder that is caused by mutations
in the branched chain alpha keto acid dehydrogenase enzyme complex (BCKDC). There …