Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency.

نویسندگان

  • René Santer
  • Ralph Fingerhut
  • Uta Lässker
  • Patrick J Wightman
  • David R Fitzpatrick
  • Bernhard Olgemöller
  • Adelbert A Roscher
چکیده

References 1. Ramsay DS, Lewis M. The effects of birth condition on infants’ cortisol response to stress. Pediatrics 1995;95:546–9. 2. Flinn MV, England BG. Social economics of childhood glucocorticoid stress response and health. Am J Phys Anthropol 1997;102:33–53. 3. Antonini SRR, Jorge SM, Moreira AC. The emergence of salivary cortisol circadian rhythm and its relationship to sleep activity in preterm infants. Clin Endocrinol 2000;52:423–6. 4. Larson MC, White BP, Cochran A, Donzella B, Gunnar MR. Dampening of the cortisol response to handling at 3 months in human infants and its relation to sleep, circadian cortisol activity, and behavioral distress. Dev Psychobiol 1998;33:327–37. 5. White BP, Gunnar MR, Larson MC, Donzella B, Barr RG. Behavioral and physiological responsivity, sleep, and patterns of daily cortisol production in infants with and without colic. Child Dev 2000;71:862–77. 6. Kirschbaum C, Hellhammer DH. Salivary cortisol in psychobiological research: an overview. Neuropsychobiology 1989;22:150–69. 7. Nelson N, Arbring K, Theodorsson E. Neonatal salivary cortisol in response to heelstick: method modifications enable analysis of low concentrations and small sample volumes. Scand J Clin Lab Invest 2001;61:287–91. 8. Raff H, Homar PJ, Burns EA. Comparison of two methods for measuring salivary cortisol. Clin Chem 2002;48:207–8. 9. Kirschbaum C, Hellhammer DH. Salivary cortisol in psychoneuroendocrine research: recent developments and applications. Psychoneuroendocrinology 1994;19:313–33. 10. Hiramatsu R. Direct assay of cortisol in human saliva by solid phase radioimmunoassay and its clinical applications. Clin Chim Acta 1981;117: 239–49. 11. Riad-Fahmy D, Read GF, Hughes LA. Corticosteroids. In: Gray CH, James VHT, eds. Hormones in blood, Vol. 4. New York: Academic Press, 1983: 285–315. 12. Price DA, Close GC, Fielding BA. Age of appearance of circadian rhythm in salivary cortisol values in infancy. Arch Dis Child 1983;58:454–6. 13. Santiago LB, Jorge SM, Moreira AC. Longitudinal evaluation of the development of salivary cortisol circadian rhythm in infancy. Clin Endocrinol 1996; 44:157–61. 14. Schwartz EB, Granger DA, Susman EJ, Gunnar MR, Laird B. Assessing salivary cortisol in studies of child development. Child Dev 1998;69:1503– 13. 15. Thijssen JHH, Van den Berg JHM, Adlercreutz H, Gijzen AHJ, de Jong FH, Moolenaar AJ. The determination of cortisol in human plasma: evaluation and comparison of seven assays. Clin Chim Acta 1980;100:39–46. 16. Magnano C, Diamond E, Gardner J. Use of salivary cortisol measurements in young infants: a note of caution. Child Dev 1989;60:1099–101. 17. Prechtl HFR. The neurological examination of the full term newborn infant, 2nd ed. Clinics in developmental medicine. No. 63. London: Spastics International Medical Publications with Heinemann. Philadelphia: Lippincott, 1977:68pp.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

IFCC method for lactate dehydrogenase measurement in heparin plasma is unreliable.

that cardiac decompensation can be avoided in MCD-deficient patients. Finally, by analogy with fatty acid oxidation disorders such as medium-chain acyl-CoA dehydrogenase deficiency (13), one may conclude that knowledge of the diagnosis will improve outcome because early intervention is then possible in catabolic episodes that otherwise may lead to metabolic derange-ment. It therefore seems reas...

متن کامل

Effects of Teucrium polium aerial parts extracts on malonyl-CoA decarboxylase level

Malonyl-CoA decarboxylase (MCD) is an enzyme involved in the decarboxylation of malonyl-CoA to acetyl-CoA. In order to explore the hypothesis that the changing plant materials’ MCD activity level can serve as therapy to diabetics, the effect of Teucrium polium compounds was studied in a diabetic rat model. In this experimental study, two groups of rats, a control and a diabetic group, each incl...

متن کامل

Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy.

Malonyl coenzyme A (CoA) decarboxylase (MCD) deficiency is a rare autosomal recessive organic acidemia characterized by varying degrees of organ involvement and severity. MCD regulates fatty acid biosynthesis and converts malonyl-CoA to acetyl-CoA. Cardiomyopathy is 1 of the leading causes of morbidity and mortality in this disorder. It is unknown if diet alone prevents cardiomyopathy developme...

متن کامل

Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.

BACKGROUND Tandem mass spectrometry (MS/MS) is rapidly being adopted by newborn screening programs to screen dried blood spots for >20 markers of disease in a single assay. Limited information is available for setting the marker cutoffs and for the resulting positive predictive values. METHODS We screened >160 000 newborns by MS/MS. The markers were extracted from blood spots into a methanol ...

متن کامل

Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

With the implementation of tandem mass spectrometry (MS/MS), neonatal screening for medium-chain acyl-CoA dehydrogenase (MCADD) has been introduced in many screening programs worldwide. Together with phenylketonuria, MCADD is the disorder most frequently diagnosed. Despite undeniable beneficial effects on morbidity and mortality, neonatal screening for MCADD effectively exemplifies the unexpect...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Clinical chemistry

دوره 49 4  شماره 

صفحات  -

تاریخ انتشار 2003