Increased C3 Acylcarnitine Concentration in a Newborn
نویسندگان
چکیده
منابع مشابه
Combination of Hyperammonaemia and Tachyarrhythmia in a Newborn with Carnitine-acylcarnitine Translocase Deficiency
Carnitine-acylcarnitine translocase (CACT) deficiency is one of the fatty acid oxidation defects that presents early in the newborn period. It is known to be associated with a high mortality with a number of the earlier reported cases presenting as sudden infant death syndrome. Like most inborn errors of metabolism, presentation of CACT deficiency is rather non specific. Typical biochemical pro...
متن کاملIncreased C3-carnitine in a healthy premature infant.
A 5-day-old male infant with an increased dried blood spot propionylcarnitine (C3-carnitine) value of 7.93 mol/L (cutoff 6.79 mol/L) was identified by the New Jersey state newborn screening program. C3carnitine 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 ...
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Plasma cortisol was measured in cord and neonatal blood. Cortisol concentration in neonates decreased rapidly during the first three days after delivery and thereafter remained at an almost constant level. The more the delivery was stressful, the higher the cortisol in the 1-day-old infant, but the concentration came down to the same level as in the less stressful delivery on the 3rd day of the...
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Trifunctional protein deficiency/Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD/TFP) deficiency is a disorder of fatty acid oxidation and ketogenesis. Severe neonatal lactic acidosis, cardiomyopathy, and hepatic dysfunction are caused by the accumulation of toxic long-chain acylcarnitines. The feasibility of umbilical cord blood use in screening for acylcarnitine analysis and free c...
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High serum concentrations of procalcitonin, a stable 116amino acid precursor molecule to the proteohormone calcitonin, have been reported in patients with severe systemic bacterial or fungal, but not viral, infections (1, 2 ). Serum procalcitonin concentrations correlated with the severity of bacterial infection and with the clinical course of the patients (3 ). In healthy volunteers, serum pro...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2016
ISSN: 0009-9147,1530-8561
DOI: 10.1373/clinchem.2016.259705