Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0162275 (ketonuria)
 553 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on a mature male newborn who presented clinically on the 2nd day of live with poor feeding and acidotic breathing. Laboratory findings like severe metabolic acidosis, hyperammonemia, hyperglycinemia, ketonuria and elevated urinary excretion of lactate and propionate suggested the presence of organoacidopathia. Propionic acidemia, however could be diagnosed definitively only when the characteristic urinary and blood metabolites were found during the state of a hyperammonemic coma provoked by a fully oral protein regimen. The diagnosis was affirmed by reduced propionate fixation and by reduced propionyl-CoA-carboxylase shown in the patient's skin fibroblasts.
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PMID:[Blood propionic acid with hyperammonemic coma]. 368 9