Article
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.
Clinica chimica acta; international journal of clinical chemistry - 1 Aug 2017
Rokicki Dariusz, Pajdowska Magdalena, Trubicka Joanna, Thong Meow-Keong, Ciara Elżbieta, Piekutowska-Abramczuk Dorota, Pronicki Maciej, Sikora Roman, Haidar Rijad, Ołtarzewski Mariusz, Jabłońska Ewa, Muthukumarasamy Premala, Sthaneswar Pavai, Gan Chin-Seng, Krajewska-Walasek Małgorzata, Carrozzo Rosalba, Verrigni Daniela, Semeraro Michela, Rizzo Cristiano, Taurisano Roberta, Alhaddad Bader, Kovacs-Nagy Reka, Haack Tobias B, Dionisi-Vici Carlo, Pronicka Ewa, Wortmann Saskia B
Abstract excerpt
The urea cycle disorder carbamoyl phosphate synthetase I deficiency is an important differential diagnosis in the encephalopathic neonate. This intoxication type inborn error of metabolism often leads to neonatal death or severe and irreversible damage of the central nervous system, even despite appropriate treatment. Timely diagnosis is crucial, but can be difficult on routine metabolite level. Here, we report...
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