Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
نویسندگان
چکیده
منابع مشابه
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
BACKGROUND Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it is one of the most frequent organic acidurias, information on the outcome of affected individuals is still limited. STUDY DESIGN/METHODS Clinical and outcome data of 55 patients with propionic acidemia from 16 European metabolic centers were evaluated retrospectively. 35 patie...
متن کاملOptic neuropathy in methylmalonic acidemia and propionic acidemia.
BACKGROUND Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare hereditary disorders of protein metabolism, manifesting early in life with ketoacidosis and encephalopathy and often resulting in chronic complications. Optic neuropathy (ON) has been increasingly recognised in both conditions, mostly through isolated case reports or small cases series. We here report the clinical feat...
متن کاملSecondary Hemophagocytosis in Propionic Acidemia
1Department of Pediatric Metabolism and Nutrition, Diyarbakir Children’s Hospital, Diyarbakir, Turkey 2Pediatric Intensive Care Unit, Diyarbakir Children’s Hospital, Diyarbakir, Turkey 3Department of Pediatric Hematology and Oncology, Diyarbakir Children’s Hospital, Diyarbakir, Turkey 4Department of Pediatric Endocrinology, Diyarbakır Children’s Hospital, Diyarbakir, Turkey 5Department of Pedia...
متن کاملPropionic acidemia in the newborn.
Propionic acidemia is a rare, autosomal, recessively inherited inborn error of propionate metabolism. It presents most often as a neonatal life threatening emergency with metabolic acidosis, hyperammonemia, hyperglycinemia and hyper gylcinuria. Since its first description in a male infant with episodic metabolic acidosis and hyperglycinemia(l), more than 100 cases have been reported. The presen...
متن کاملLong QTc Syndrome and Propionic Acidemia.
A 9-year-old boy diagnosed as Propionic acidemia at 2 months of age, complained of palpitations and nearsyncope episodes related with exercise. His metabolic condition was well controlled on sodium benzoate, carnitine, protein-free diet and biotin treatment. A prolonged QTc interval was noted on ECG-Holter (Fig. 1). Echocardiography showed no anomalies. He fulfilled criteria for diagnosis of Lo...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2013
ISSN: 1750-1172
DOI: 10.1186/1750-1172-8-6