TY - JOUR
T1 - Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonate
AU - Harding, Cary O.
AU - Pillers, De Ann M.
AU - Steiner, Robert D.
AU - Bottiglieri, Teodoro
AU - Rosenblatt, David S.
AU - Debley, Jason
AU - Gibson, K. Michael
PY - 2003/8
Y1 - 2003/8
N2 - 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.
AB - 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.
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U2 - 10.1038/sj.jp.7210955
DO - 10.1038/sj.jp.7210955
M3 - Article
C2 - 12847533
AN - SCOPUS:0041695146
SN - 0743-8346
VL - 23
SP - 384
EP - 386
JO - Journal of Perinatology
JF - Journal of Perinatology
IS - 5
ER -