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, cilt.23, ss.71-75, 2015 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 23
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1007/8904_2015_429
  • Dergi Adı: JIMD REPORTS, VOL 23
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, Directory of Open Access Journals
  • Sayfa Sayıları: ss.71-75
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.