Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy

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Acute management of propionic acidemia.

Propionic acidemia or aciduria is an intoxication-type disorder of organic metabolism. Patients deteriorate in times of increased metabolic demand and subsequent catabolism. Metabolic decompensation can manifest with lethargy, vomiting, coma and death if not appropriately treated. On January 28-30, 2011 in Washington, D.C., Children's National Medical Center hosted a group of clinicians, scient...

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Acute onset of severe dilated cardiomyopathy during bromocriptine therapy.

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Secondary Hemophagocytosis in Propionic Acidemia

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Propionic 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...

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Natural history of propionic acidemia.

Propionic acidemia is an organic acidemia that can lead to metabolic acidosis, coma and death, if not treated appropriately in the acute setting. Recent advancements in treatment have allowed patients with propionic acidemia to live beyond the neonatal period and acute presentation. The natural history of the disease is just beginning to be elucidated as individuals reach older ages. Recent stu...

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ژورنال

عنوان ژورنال: European Journal of Pediatrics

سال: 2014

ISSN: 0340-6199,1432-1076

DOI: 10.1007/s00431-014-2359-6