Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonate

Cary O. Harding, De Ann M. Pillers, Robert D. Steiner, Teodoro Bottiglieri, David S. Rosenblatt, Jason Debley, K. Michael Gibson

Research output: Contribution to journalArticle

15 Scopus citations


We report two infants with an inborn error of cobalamin (vitamin B12) metabolism whose clinical presentation in the first month of life strongly suggested bacterial or viral sepsis. The absence of any acute metabolic derangement (acidosis, hyperammonemia, hypoglycemia, or ketosis) in association with clinical features suggesting sepsis (lethargy, obtundation) could impede the correct diagnosis of cobalamin C (cblC) disorder. In addtion, this is the first documentation of cerebrospinal fluid hyperhomocysteinemia in cblC defect that was highly increased and is likely to be associated with neurotoxocity in cblC patients.

Original languageEnglish (US)
Pages (from-to)384-386
Number of pages3
JournalJournal of Perinatology
Issue number5
StatePublished - Aug 1 2003


ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynecology

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