Clinica chimica acta; international journal of clinical chemistry · 2017
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.
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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
Аннотация
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 ten neonates from eight families (finally) diagnosed with CPS1 deficiency at three tertiary metabolic centres. In seven of them the laboratory findings were dominated by significantly elevated urinary 3-methylglutaconic acid levels which complicated the diagnostic process. Our findings are both important for the differential diagnosis of patients with urea cycle disorders and also broaden the differential diagnosis of hyperammonemia associated with 3-methylglutaconic aciduria, which was earlier only reported in TMEM70 and SERAC1 defect.