A Newborn with Propionic Acidemia Mimicking Urea Cycle Defect
نویسندگان
چکیده
Neonatal-onset propionic acidemia is the most common form of disorder. A 9-days old new born admitted to our hospital with lethargy suggested urea cycle defect at first look due to lack of metabolic acidosis, normal ketone and anion gap in laboratory evaluations. The case mimicking urea cycle defect, which was diagnosed as neonatal-onset propionic acidemia by specific tests, was presented because of its unusual manifestation.
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