3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

Dariusz Rokicki, Magdalena Pajdowska, Joanna Trubicka, Meow Keong Thong, Elżbieta Ciara, Dorota Piekutowska-Abramczuk, Maciej Pronicki, Roman Sikora, Rijad Haidar, Mariusz Ołtarzewski, Ewa Jabłońska, Premala Muthukumarasamy, Pavai Sthaneswar, Chin Seng Gan, Małgorzata Krajewska-Walasek, Rosalba Carrozzo, Daniela Verrigni, Michela Semeraro, Cristiano Rizzo, Roberta TaurisanoBader Alhaddad, Reka Kovacs-Nagy, Tobias B. Haack, Carlo Dionisi-Vici, Ewa Pronicka, Saskia B. Wortmann

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)95-100
Number of pages6
JournalClinica Chimica Acta
Volume471
DOIs
Publication statusPublished - Aug 1 2017

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Biochemistry, medical

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    Rokicki, D., Pajdowska, M., Trubicka, J., Thong, M. K., Ciara, E., Piekutowska-Abramczuk, D., Pronicki, M., Sikora, R., Haidar, R., Ołtarzewski, M., Jabłońska, E., Muthukumarasamy, P., Sthaneswar, P., Gan, C. S., Krajewska-Walasek, M., Carrozzo, R., Verrigni, D., Semeraro, M., Rizzo, C., ... Wortmann, S. B. (2017). 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency. Clinica Chimica Acta, 471, 95-100. https://doi.org/10.1016/j.cca.2017.05.023