The radioisotopic assay for carnitine first described by Cederblad and Lindstedt (Clin. Chim. Acta. 37:235-543, 1972) and modified by Bohmer et al (Clin. Chim. Acta. 57:55-61, 1974) has been improved and simplified. As a result, the assay yields a linear response over a wide range of carnitine concentrations without the need for excessive amounts of labeled acetyl-CoA. In addition, it will meas...

A high prevalence of the sequence variant c.1436C→T in the CPT1A gene has been identified among Alaska Native newborns but the clinical implications of this variant are unknown. We conducted medically supervised fasts in 5 children homozygous for the c.1436C→T variant. Plasma free fatty acids increased normally in these children but their long-chain acylcarnitine and ketone production was signi...

BACKGROUND In carnitine palmitoyltransferase I (CPT-I) deficiency (MIM 255120), free carnitine can be increased with no pathologic acylcarnitine species detectable. As inclusion of CPT-I deficiency in high-risk and newborn screening could prevent potentially life-threatening complications, we tested whether CPT-I deficiency might be diagnosed by electrospray ionization-tandem mass spectrometry ...

l-carnitine is present in mammalian cells as free carnitine and acylcarnitines. The acylcarnitine profile has been shown to be useful in identifying inborn errors of metabolism and to be altered under different metabolic conditions. While carnitine's most widely known function is its involvement in beta-oxidation of fatty acids, it may also have other roles in metabolism. The importance of acyl...

There are many evidences that human serum paraoxonase activity modifies plasma lipid profile and paraoxonase has an antiatherogenic property. Non-selective beta-blockers affect plasma lipid profile too, but they have atherogenic property when patients take these drugs in long term. In this study the effect of propranolol, a non-selective beta-blocker, on paraoxonase activity was investigated. L...

In April 2000, the Wisconsin Newborn Screening Program implemented tandem mass spectrometry (MS/MS) technology to expand the newborn screening panel from 13 to 48 disorders, the majority of which are inborn errors of metabolism. Among other tests, this technology measures the acylcarnitine profile from blood spots collected from infants at 24 to 48 hours of age. During the first 5.75 years of e...

Background The 4-thia fatty acid tetradecylthiopropionic acid (TTP) is known to inhibit mitochondrial β-oxidation, and can be used as chemically induced hepatic steatosis-model in rodents, while 3-thia fatty acid tetradecylthioacetic acid (TTA) stimulates fatty acid oxidation through activation of peroxisome proliferator activated receptor alpha (PPARα). We wished to determine how these two com...

There are many evidences that human serum paraoxonase activity modifies plasma lipid profile and paraoxonase has an antiatherogenic property. Non-selective beta-blockers affect plasma lipid profile too, but they have atherogenic property when patients take these drugs in long term. In this study the effect of propranolol, a non-selective beta-blocker, on paraoxonase activity was investigated. L...

An uncommon autosomal recessive organic acid disease is malonic aciduria. This may be easily identified and included in the NBS programmes by means of widespread use tandem mass spectrometry’s study amino acid/acylcarnitine profile using dried blood spots (DBS) for newborn screening. In Tamil Nadu, we reported first screened diagnosed with aciduria screening (NBS) early neonatal period. The pat...