4 results match your criteria: "Intergen Genetics and Rare Diseases Diagnosis Center[Affiliation]"
Introduction: Inherited 5-oxoprolinase (OPLAH) deficiency is a rare inborn condition characterized by 5-oxoprolinuria. The inherited condition of 5-oxoprolinuria, or pyroglutamic aciduria, is primarily caused by mutations in the genes that encode glutathione synthetase (GSS) and 5-oxoprolinase (OPLAH), which are enzymes involved in the gamma-glutamyl cycle in glutathione metabolism. We report a 3-year-old male patient with epilepsy and speech difficulty diagnosed as primary 5-oxoprolinuria due to a novel gene mutation.
View Article and Find Full Text PDFJ Pediatr Hematol Oncol
August 2024
Department of Pediatrics, Division of Neonatology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.
Objective: Neonatal sepsis and familial hemophagocytic lymphohistiocytosis (fHLH) have similar clinical and laboratory symptoms and the possibility of overlooking fHLH diagnosis is high in newborns with sepsis. History of consanguineous marriage and/or sibling death, hepatomegaly/splenomegaly, and hyperferritinemia (>500 ng/mL) are likely to support fHLH in newborns with sepsis. Therefore, in newborns with sepsis in whom at least 2 of these 3 criteria were detected, genetic variants was investigated for the definitive diagnosed of fHLH.
View Article and Find Full Text PDFAm J Med Genet A
September 2024
Faculty of Medicine, Department of Medical Genetics, Pamukkale University, Denizli, Turkey.
Filippi syndrome is a rare genetic disorder characterized by growth and neurodevelopmental delays, dysmorphism, and selective limb abnormalities. Although the syndrome was described approximately four decades ago, only a few families with molecularly confirmed diagnoses have been reported. In this article, we present three new patients of Filippi syndrome with unusual clinical and genetic aspects.
View Article and Find Full Text PDFTurk J Haematol
August 2023
Antalya Genetic Assessment Center, Antalya, Türkiye