Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening.
Pediatr Int
; 60(1): 67-69, 2018 Jan.
Article
en En
| MEDLINE
| ID: mdl-29059480
ABSTRACT
BACKGROUND:
Glutaryl carnitine (C5DC) in dried blood spots is used as a biomarker for glutaric aciduria type 1 (GA-1) screening. C5DC, however, is the only screening marker for this condition, and various pathological conditions may interfere with C5DC metabolism. Recently, C5DC elevation has been reported in cases of renal insufficiency.METHOD:
Five patients who were positive for GA-1 on newborn screening with tandem mass spectrometry between September 2012 and March 2015 at Kobe University Hospital were enrolled in this study.RESULTS:
GA-1 was not confirmed on urinary organic acids analysis in any of the patients. C5DC decreased immediately in four patients, but one patient, who had high C5DC for at least 4 months, was diagnosed with bilateral renal hypoplasia.CONCLUSION:
In the case of persistently elevated C5DC, renal insufficiency should be considered as a differential diagnosis.Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Encefalopatías Metabólicas
/
Tamizaje Neonatal
/
Insuficiencia Renal
/
Glutaril-CoA Deshidrogenasa
/
Errores Innatos del Metabolismo de los Aminoácidos
Tipo de estudio:
Diagnostic_studies
/
Screening_studies
Límite:
Humans
/
Newborn
Idioma:
En
Año:
2018
Tipo del documento:
Article