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

Clinica Chimica Acta; International Journal of Clinical Chemistry
Dariusz RokickiSaskia B Wortmann

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.

References

May 28, 2004·Prenatal Diagnosis·Johannes Häberle, Hans Georg Koch
Feb 21, 2007·Journal of Human Genetics·Keiji KurokawaTatsutoshi Nakahata
Nov 19, 2008·Brain : a Journal of Neurology·Saskia B WortmannEva Morava
May 31, 2012·Orphanet Journal of Rare Diseases·Johannes HäberleCarlo Dionisi-Vici
Jan 29, 2013·Journal of Inherited Metabolic Disease·Saskia B WortmannRon A Wevers
Jan 18, 2014·Circulation Research·Rafal PloskiZofia T Bilinska
Oct 19, 2014·Journal of Inherited Metabolic Disease·Martin MagnerTomas Honzik
Apr 16, 2015·Orphanet Journal of Rare Diseases·Diego MartinelliCarlo Dionisi-Vici

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Citations

Apr 16, 2019·Journal of Inherited Metabolic Disease·Johannes HäberleCarlo Dionisi-Vici
Aug 20, 2021·Clinica Chimica Acta; International Journal of Clinical Chemistry·Dylan E JonesRobert O Ryan
Oct 13, 2021·European Journal of Medical Genetics·Catherine A ZiatsNeena L Champaigne

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