Maple syrup urine disease: newborn screening fails to discriminate between classic and variant forms.

نویسندگان

  • Ralph Fingerhut
  • Eva Simon
  • Esther M Maier
  • Julia B Hennermann
  • Udo Wendel
چکیده

tems calibrators for metanephrines. The increase in sources of calibrators did not cause a decrease in the accuracy of the results during external quality control program in the 2004– 2006 period. The observed differences in published reference values for urinary metanephrines are not mainly because of analytical reasons but most probably are due to differences in the characteristics of reference groups. The present availability of consistent calibrators should prompt efforts to define and validate reference values based on a large pool of observations, which then could be used in multiple laboratories.

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

A Classic Case of Maple Syrup Urine Disease and a Novel Mutation in the BCKDHA Gene

Background: Maple syrup urine disease (MSUD) is an inherited branched-chain amino acid metabolic disorder caused by the deficiency in the branched-chain alpha-keto acid dehydrogenase (BCKD) complex. In MSUD, elevation of the branched-chain amino acids, such as alpha-keto acid and alpha-hydroxy acid, occurs due to the BCKDC gene deficiency, appearing in the blood, urine, and cerebrospinal fluid,...

متن کامل

Selective Screening of Phenylketonuria, Tyrosinemia and Maple Syrup Urine Disease in Southern Iran

Inborn errors of amino-acids metabolism and other inherited Mendeliandisorders are common in the MiddleEast.The number of diagnosed inborn errors of amino acid metabolism is growing constantly on account of and availability and improved of analytical techniques.  The aim of this work was to determine a rough estimate of the incidence rates of phenylketonuria (PKU), tyrosinemia, and maple syrup ...

متن کامل

Maple syrup urine disease: mechanisms and management

Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAAs) in plasma, α-ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine. The disorder varies in severity and the clinical spectrum is quite broad with five rec...

متن کامل

Data and Methods Used in OTA'S Cost-Effectiveness Analysis of Strategies for Newborn Screening

This appendix presents information on sources of data and methods of calculation used in OTA’s costeffectiveness analysis of strategies for newborn screening, which is presented in chapter 5. That chapter considered seven different strategies offering different combinations of tests for phenylketonuria (PKU), congenital hypothyroidism, galactosemia, maple syrup urine disease (MSUD), and homocys...

متن کامل

Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte

Dihydrolipoamide dehydrogenase deficiency, also known as maple syrup urine disease (MSUD) type III, is caused by the deficiency of the E3 subunit of branched chain alpha-ketoacid dehydrogenase (BCKDH), α-ketoglutarate dehydrogenase (αKGDH), and pyruvate dehydrogenase (PDH). DLD deficiency variably presents with either a severe neonatal encephalopathic phenotype or a primarily hepatic phenotype....

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 54 10  شماره 

صفحات  -

تاریخ انتشار 2008