Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonate.
We report two infants with an inborn error of cobalamin (vitamin B(12)) 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 addition, this is the first documentation of cerebrospinal fluid hyperhomocysteinemia in cblC defect that was highly increased and is likely to be associated with neurotoxicity in cblC patients.
Harding
Cary O
CO
Department of Pediatrics, Oregon Health & Science University, Portland, OR 97239-2998, USA.
Pillers
De-Ann M
DA
Steiner
Robert D
RD
Bottiglieri
Teodoro
T
Rosenblatt
David S
DS
Debley
Jason
J
Michael Gibson
K
K
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000188:drug therapy; D001774:Blood Chemical Analysis / Q000379:methods; D003951:Diagnostic Errors; D005260:Female; D006801:Humans; D020138:Hyperhomocysteinemia / Q000175:diagnosis* / Q000188:drug therapy; D007231:Infant, Newborn; D008297:Male; D008764:Methylmalonic Acid / Q000378:metabolism*; D011379:Prognosis; D018570:Risk Assessment; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index; D016896:Treatment Outcome; D016482:Urinalysis / Q000379:methods
D008764:Methylmalonic Acid