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3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency
- Source :
- Clinica Chimica Acta. 471:95-100
- Publication Year :
- 2017
- Publisher :
- Elsevier BV, 2017.
-
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.
- 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
Subjects
Details
- ISSN :
- 00098981
- Volume :
- 471
- Database :
- OpenAIRE
- Journal :
- Clinica Chimica Acta
- Accession number :
- edsair.doi.dedup.....f037624b6b30eac8d8f421589b8773b6