Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening
Copyright policy )Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening
AbstractBackgroundGlutaryl 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.MethodFive 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.ResultsGA‐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.ConclusionIn the case of persistently elevated C5DC, renal insufficiency should be considered as a differential diagnosis.
- Hyogo College of Medicine Japan
- Kobe University Japan
- Shimane University Japan
Glutaryl-CoA Dehydrogenase, Brain Diseases, Metabolic, Infant, Newborn, glutaric acidemia I, renal insufficiency, Diagnosis, Differential, Neonatal Screening, Tandem Mass Spectrometry, neonatal screening, Humans, Renal Insufficiency, Amino Acid Metabolism, Inborn Errors, glutaryl carnitine
Glutaryl-CoA Dehydrogenase, Brain Diseases, Metabolic, Infant, Newborn, glutaric acidemia I, renal insufficiency, Diagnosis, Differential, Neonatal Screening, Tandem Mass Spectrometry, neonatal screening, Humans, Renal Insufficiency, Amino Acid Metabolism, Inborn Errors, glutaryl carnitine
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