title: Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonate.
abstract: 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.
authors.affiliation: Department of Pediatrics, Oregon Health & Science University, Portland, OR 97239-2998, USA.
authors.forename: Cary O
authors.initials: CO
authors.lastname: Harding
authors.forename: De-Ann M
authors.initials: DA
authors.lastname: Pillers
authors.forename: Robert D
authors.initials: RD
authors.lastname: Steiner
authors.forename: Teodoro
authors.initials: T
authors.lastname: Bottiglieri
authors.forename: David S
authors.initials: DS
authors.lastname: Rosenblatt
authors.forename: Jason
authors.initials: J
authors.lastname: Debley
authors.forename: K
authors.initials: K
authors.lastname: Michael Gibson
mesh_terms: 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
chemical_list: D008764:Methylmalonic Acid