Article
Ornithine transcarbamylase deficiency of a male newborn with fatal outcome.
International journal of legal medicine - 1 May 2016
Hartung Benno, Temme Oliver, Neuen-Jacob Eva, Ritz-Timme Stefanie, Hinderhofer Katrin, Daldrup Thomas
Abstract excerpt
Ornithine transcarbamylase deficiency (OTCD) is the most common malfunction of ureagenesis. The case of a male newborn who died at the age of 2 days for clinically unclear reasons is presented. The post-mortem routine and esoteric testing methods that finally led to the diagnosis of a fatal case of OTCD are outlined here.
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