Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level


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Ahrens-Nicklas R. C., Serdaroglu E., Muraresku C., Ficicioglu C.

JIMD REPORTS, VOL 23, vol.23, pp.71-75, 2015 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 23
  • Publication Date: 2015
  • Doi Number: 10.1007/8904_2015_429
  • Journal Name: JIMD REPORTS, VOL 23
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, Directory of Open Access Journals
  • Page Numbers: pp.71-75
  • Hacettepe University Affiliated: Yes

Abstract

Cobalamin C (CblC) disease is the most common inherited disorder of intracellular cobalamin metabolism. It is a multisystemic disorder mainly affecting the eye and brain and characterized biochemically by methylmalonic aciduria, low methionine level, and homocystinuria. We report a patient found to have CblC disease who initially presented with low carnitine and normal propionylcarnitine (C3) levels on newborn screen. Newborn screening likely failed to detect CblC in this patient because of both his low carnitine level and the presence of a mild phenotype.