3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.
Clin Chim Acta
; 471: 95-100, 2017 Aug.
Article
in En
| MEDLINE
| ID: mdl-28526534
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.
Full text:
1
Database:
MEDLINE
Main subject:
Carbamoyl-Phosphate Synthase I Deficiency Disease
/
Glutarates
Type of study:
Diagnostic_studies
Limits:
Female
/
Humans
/
Male
/
Newborn
Language:
En
Journal:
Clin Chim Acta
Year:
2017
Type:
Article
Affiliation country:
Poland