Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening

Pediatr Int. 2018 Jan;60(1):67-69. doi: 10.1111/ped.13438. Epub 2017 Dec 14.

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.

Keywords: glutaric acidemia I; glutaryl carnitine; neonatal screening; renal insufficiency.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Brain Diseases, Metabolic / diagnosis*
  • Diagnosis, Differential
  • Glutaryl-CoA Dehydrogenase / deficiency*
  • Humans
  • Infant, Newborn
  • Neonatal Screening / methods*
  • Renal Insufficiency / diagnosis*
  • Tandem Mass Spectrometry

Substances

  • Glutaryl-CoA Dehydrogenase

Supplementary concepts

  • Glutaric Acidemia I