This podcast reviews large molecule metabolic diseases including glycogen storage diseases, lysosomal and peroxisomal diseases and mucopolysaccharidoses.
Pediatric Education Online
This podcast reviews large molecule metabolic diseases including glycogen storage diseases, lysosomal and peroxisomal diseases and mucopolysaccharidoses.
This podcast reviews a wide range of small molecule diseases including amino and organic acidemias, urea cycle disorders, fatty acid oxidation defects, carbohydrate metabolism defects, mitochondrial oxidative phosphorylation disorders, purine and pyrimidine metabolism disorders and pyruvate metabolism disorders.
Mr. and Mrs. Flint bring in their 6 week old baby boy, Charlie, to the Emergency Department (ED) with a week long history of post-parandial emesis.
This podcast develops a general approach to inborn errors of metabolism, reviewing basic epidemiology, presentations, and initation investigations and management.
A 10 year old boy presents to the emergency department with severe shortness of breath and wheezing.
Mrs. X presents to your pediatric clinic with her 4 month old son. She tells you that her son was a previously happy and healthy baby, whose only issues included the occasional “spit-up” episode. However, she has recently noticed that he has become more irritable and vomits after most of his feeds.