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• W2110617085 abstract "A 5-day-old male infant with an increased dried blood spot propionylcarnitine (C3-carnitine) value of 7.93 μmol/L (cutoff <6.79 μmol/L) was identified by the New Jersey state newborn screening program. C3-carnitine is used as a screening tool for methylmalonic and propionic acidemias, potentially fatal but treatable inborn errors of metabolism. The initial screen values provided a calculated C3:C2 carnitine ratio of 0.23 (cutoff <0.32, mean 0.074) and a C3:C16 ratio of 2.51 (cutoff <4.16, mean 0.96). The child was an inpatient at an outlying neonatal intensive care unit. He was born at 35 weeks estimated gestational age, required continuous positive airway pressure for a short time after birth, and transitioned quickly to room air. He was taking regular feedings with a cow’s milk protein–based formula.On day of life 6, the patient developed a mild acidosis (pH 7.24 on arterial blood gas testing). Because methylmalonic and propionic acidemia could not be excluded while confirmatory test results were pending, feedings were discontinued, intravenous hydration with glucose-containing fluids was initiated, and the infant was transferred to our institution. On arrival the child appeared well, was alert, and had normal growth parameters and no tachypnea. He had good tone and normal reflexes, and laboratory studies showed no acidosis. We allowed normal feedings and proceeded with the diagnostic evaluation.Although C3-carnitine appears in the blood, the active metabolite within the mitochondrion is propionyl-CoA. Propionyl-CoA is an intermediate in the degradation of several amino acids. It can also appear as an intermediate of odd-chain fatty acid metabolism and exogenously as a derivative of propionate that is generated by gastrointestinal flora. Normally propionyl-CoA is metabolized to methylmalonyl-CoA by the action of propionyl-CoA carboxylase (PCC), but if the metabolite is in excess the propionyl species is released from the mitochondrion after conversion by carnitine palmitoyl transferase II to …" @default.
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• W2110617085 date "2008-11-01" @default.
• W2110617085 modified "2023-09-28" @default.
• W2110617085 title "Increased C3-Carnitine in a Healthy Premature Infant" @default.
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• W2110617085 doi "https://doi.org/10.1373/clinchem.2008.107581" @default.
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