Severe renal failure and hyperammonemia in a newborn with propionic acidemia: effects of treatment on the clinical course

Kasapkara C. S., Kasapkara S., Akar M., Nagehan Z., Yildirim Y., Tuzun H., ...Daha Fazla

RENAL FAILURE, cilt.36, sa.3, ss.451-452, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 36 Sayı: 3
  • Basım Tarihi: 2014
  • Doi Numarası: 10.3109/0886022x.2013.865484
  • Dergi Adı: RENAL FAILURE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.451-452
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.