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

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

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

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
Volume23
Issue number5
DOIs
StatePublished - Aug 2003

Fingerprint

Hyperhomocysteinemia
Vitamin B 12
Diagnostic Errors
Newborn Infant
Sepsis
Hyperammonemia
Lethargy
Ketosis
Acidosis
Hypoglycemia
Documentation
Cerebrospinal Fluid
Methylmalonic acidemia

ASJC Scopus subject areas

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

Cite this

Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonate. / Harding, Cary; Pillers, De Ann M; Steiner, Robert D.; Bottiglieri, Teodoro; Rosenblatt, David S.; Debley, Jason; Gibson, K. Michael.

In: Journal of Perinatology, Vol. 23, No. 5, 08.2003, p. 384-386.

Research output: Contribution to journalArticle

Harding, Cary ; Pillers, De Ann M ; Steiner, Robert D. ; Bottiglieri, Teodoro ; Rosenblatt, David S. ; Debley, Jason ; Gibson, K. Michael. / Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonate. In: Journal of Perinatology. 2003 ; Vol. 23, No. 5. pp. 384-386.
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