1. 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency
- Author
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Dorota Piekutowska-Abramczuk, Daniela Verrigni, Meow-Keong Thong, Roberta Taurisano, Cristiano Rizzo, Magdalena Pajdowska, Premala Muthukumarasamy, Chin Seng Gan, Ewa Jabłońska, Ewa Pronicka, Saskia B. Wortmann, Mariusz Ołtarzewski, Joanna Trubicka, Carlo Dionisi-Vici, Maciej Pronicki, Bader Alhaddad, Reka Kovacs-Nagy, Rosalba Carrozzo, Rijad Haidar, Elżbieta Ciara, Małgorzata Krajewska-Walasek, Dariusz Rokicki, Michela Semeraro, Tobias B. Haack, Roman Sikora, and Pavai Sthaneswar
- Subjects
Male ,0301 basic medicine ,medicine.medical_specialty ,Urea cycle disorder ,Carbamoyl-Phosphate Synthase I Deficiency Disease ,Urinary system ,Clinical Biochemistry ,Biology ,Biochemistry ,Gastroenterology ,Glutarates ,03 medical and health sciences ,Internal medicine ,medicine ,Humans ,Biochemistry (medical) ,Infant, Newborn ,Hyperammonemia ,General Medicine ,3-Methylglutaconic Aciduria ,medicine.disease ,Pedigree ,030104 developmental biology ,Endocrinology ,Inborn error of metabolism ,Urea cycle ,Carbamoyl phosphate synthetase I deficiency ,Mutation ,Female ,Differential diagnosis - 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.
- Published
- 2017