Severe renal failure and hyperammonemia in a newborn with propionic acidemia: effects of treatment on the clinical course
| Autor: | Melek Akar, Zeynep Nagehan Yürük Yıldırım, Mehmet Nuri Ozbek, Çiğdem Seher Kasapkara, Berat Kanar, Heybet Tüzün |
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| Rok vydání: | 2013 |
| Předmět: |
medicine.medical_specialty
Propionic Acidemia Anion gap Hypoglycemia Critical Care and Intensive Care Medicine Gastroenterology Lethargy Internal medicine medicine Humans Hyperammonemia Propionic acidemia business.industry Infant Newborn Metabolic acidosis General Medicine Acute Kidney Injury medicine.disease Combined Modality Therapy Endocrinology Nephrology Vomiting Ketonuria Female medicine.symptom business Peritoneal Dialysis |
| Zdroj: | Renal failure. 36(3) |
| ISSN: | 1525-6049 |
| Popis: | Neonatal-onset propionic acidemia (PA), the most common form, is characterized by poor feeding, vomiting, and somnolence in the first days of life in a previously healthy infant, followed by lethargy, seizures, and can progress to coma if not identified and treated appropriately. It is frequently accompanied by metabolic acidosis with anion gap, ketonuria, hypoglycemia, hyperammonemia, and cytopenias. PA is caused by deficiency of propionyl-CoA carboxylase (PCC), the enzyme that catalyzes the conversion of propionyl-CoA to methylmalonyl-CoA. Herein, we report a case of 3-day-old neonate with PA presented with acute renal failure and metabolic acidosis was effectively treated by peritoneal dialysis and conventional methods. |
| Databáze: | OpenAIRE |
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