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High Anion Gap Metabolic Acidosis and 5-Oxoprolinuria in a Hospital Setting Induced by Acetaminophen, Sepsis, and Malnutrition: A Case Report.
Cureus
December 2024
Nephrology, NewYork-Presbyterian Queens, New York, USA.
High anion gap metabolic acidosis (HAGMA) is a common biochemical abnormality in hospitalized patients, often linked to conditions such as lactic acidosis, renal failure, or drug toxicity. A rare etiology, 5-oxoprolinuria, resulting from acetaminophen use, malnutrition, and sepsis, is increasingly recognized in critically ill patients. We report a 29-year-old male with a history of intellectual disability and normal baseline kidney function who was admitted with acute necrotizing pancreatitis and developed severe metabolic acidosis and acute kidney injury (AKI).
View Article and Find Full Text PDFPyroglutamic acidosis (PGA) or 5-Oxoprolinuria is an uncommon and often overlooked cause of high anion gap metabolic acidosis (HAGMA). This case highlights the importance of systematically approaching HAGMA, and to consider PGA as a differential diagnosis when medications that disrupt the γ-glutamyl cycle such as flucloxacillin and paracetamol are present.
View Article and Find Full Text PDFThe concomitant use of paracetamol and flucloxacillin. A rare cause of high anion gap metabolic acidosis in the frail oldest old.
Acta Clin Belg
December 2023
Department of Geriatric Medicine, Ghent University Hospital, Ghent, Belgium.
Objectives: This article describes the occurrence of a high anion gap metabolic acidosis (HAGMA) in two older, female patients with a methicillin sensitive staphylococcus aureus (MSSA) infection. Both patients received flucloxacillin and paracetamol. Both of them initially improved but declined rapidly after two to three weeks of treatment.
View Article and Find Full Text PDFSevere Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up.
Am J Case Rep
April 2023
Department of Pediatrics, Takatsuki General Hospital, Takatsuki, Osaka, Japan.
BACKGROUND Glutathione synthetase deficiency (GSD) is a rare autosomal recessive disorder caused by glutathione synthetase (GSS) gene variants that occur in 1 in 1 million individuals. The severe form of GSD is characterized by hemolytic anemia, metabolic acidosis with 5-oxoprolinuria, progressive neurological symptoms, and recurrent bacterial infections. This case report presents a male Japanese infant with severe hemolytic anemia and metabolic acidosis at birth caused by GSD, who developed progressive neurological symptoms on follow-up.
View Article and Find Full Text PDFGas Chromatography Mass Spectrometry Aided Diagnosis of Glutathione Synthetase Deficiency.
Lab Med
May 2022
Genetic Metabolic Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Glutathione synthetase (GSS) deficiency is a rare disorder, occurring with a frequency of less than 1 in 100,000 individuals worldwide. The clinical presentation may vary from mild to severe, and manifestations include hemolytic anemia, hyperbilirubinemia, metabolic acidosis, neurological problems, and sepsis. Herein, we present a case of a newborn boy with the most severe phenotype of GSS deficiency, diagnosed based on clinical features and increased urinary 5-oxoproline levels determined via gas chromatography mass spectrometry (GCMS) testing.
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