TITLE

Effectiveness of neonatal screening for MCAD deficiency in Australia

PUB. DATE
June 2007
SOURCE
Archives of Disease in Childhood;Jun2007, Vol. 92 Issue 6, p545
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
The article discusses an Australian-wide study of the effectiveness of screening by tandem-mass spectrometry for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. The study included 2,495,000 infants born between April 1994 and March 2004, of whom 810,000 were screened. MCAD deficiency was diagnosed in 2.3 per 100,000 infants in the unscreened population and in 5.2 per 100,000 in the screened population.
ACCESSION #
25471907

 

Related Articles

  • Principal component analysis of urine metabolites detected by NMR and DESI–MS in patients with inborn errors of metabolism. Zhengzheng Pan; Haiwei Gu; Talaty, Nari; Huanwen Chen; Shanaiah, Narasimhamurthy; Hainline, Bryan E.; Cooks, R. Graham; Raftery, Daniel // Analytical & Bioanalytical Chemistry;Jan2007, Vol. 387 Issue 2, p539 

    Urine metabolic profiles of patients with inborn errors of metabolism were examined with nuclear magnetic resonance (NMR) and desorption electrospray ionization mass spectrometry (DESI–MS) methods. Spectra obtained from the study of urine samples from individual patients with...

  • Production and characterization of murine models of classic and intermediate maple syrup urine disease. Homanics, Gregg E; Skvorak, Kristen; Ferguson, Carolyn; Watkins, Simon; Paul, Harbhajan S // BMC Medical Genetics;2006, Vol. 7, p33 

    Background: Maple Syrup Urine Disease (MSUD) is an inborn error of metabolism caused by a deficiency of branched-chain keto acid dehydrogenase. MSUD has several clinical phenotypes depending on the degree of enzyme deficiency. Current treatments are not satisfactory and require new approaches to...

  • G6PD Viangchan (871G>A) is the most common G6PD-deficient variant in the Cambodian population. Louicharoen, Chalisa; Nuchprayoon, Issarang // Journal of Human Genetics;Sep2005, Vol. 50 Issue 9, p448 

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary enzymopathy among Southeast Asians. We studied G6PD mutations in 108 migrant Cambodian laborers in Chanthaburi province and cord blood samples from 107 Cambodian newborns at Buriram Hospital. Thirty-one (26.1%) of...

  • Detection of Inborn Errors of Metabolism using Tandem Mass Spectrometry among High-risk Omani Patients. Al Riyami, Sulaiman; Al Maney, Matar; Joshi, Surendra Nath; Bayoumi, Riad // Oman Medical Journal;Nov2012, Vol. 27 Issue 6, p482 

    Objective: This is a report on the types and patterns of inborn errors of metabolism (IEMs) of amino acids, organic acids and fatty acids oxidation detected by Tandem Mass Spectrometry for a period of 10 years (1998-2008) at Sultan Qaboos University Hospital (SQUH), the major centre for...

  • Newborn Screening in Slovakia - From 1985 Till Today / Novorodencký skríning na Slovensku - od roku 1985 doposiaľ. Dluholucký, S.; Knapková, M. // Acta Facultatis Pharmaceuticae Universitatis Comenianae;2013 Supplement 8, Vol. 60, p32 

    Regular newborn screening enables detection of severe disorders in their asymptomatic early phase and thus allows the start of early treatment and prevention of long-term sequelae. This concept is in full accordance with care for so called rare diseases. Recently, the national NBS in Europe are...

  • Hemochromatosis, or Bronze Diabetes: Caused by Iron Overload.  // Diabetes Health;Oct/Nov2007, Vol. 16 Issue 5, p28 

    The article offers information on hemochromatosis. Known as the most common single gene disease in the U.S., hemochromatosis occurs in people who have two copies of the mutated gene that causes it. The disease is diagnosed by blood tests such as serum iron and total iron binding capacity (TIBC)...

  • Disease frequency of Inborn Errors of Metabolism in the Irish Traveller Community. Murphy, A. M. // Ulster Medical Journal;2008, Vol. 77 Issue 1, p69 

    The frequency of Inherited Metabolic Disorders (IEMs) varies between ethnic groups, reflecting founder effect, genetic isolation, and the potential effects of consanguinity. These disorders are a major cause of morbidity and mortality in "Irish Travellers", an endogamous group of nomads who...

  • Hereditary hemochromatosis-- early diagnosis can lead to cure. Chung, Raymond T.; Greenberger, Norton J.; Glaser, Vicki // Patient Care;Aug2003, Vol. 37 Issue 8, p54 

    Provides information on hereditary hemochromatosis (HH). Most common form of HH; Main genetic defect linked to phenotypic HH; Prevention and diagnosis. INSET: This article at a glance.

  • Genomic imprinting disorders in humans: a mini-review. Butler, Merlin G. // Journal of Assisted Reproduction & Genetics;Sep/Oct2009, Vol. 26 Issue 9/10, p477 

    Mammals inherit two complete sets of chromosomes, one from the father and one from the mother, and most autosomal genes are expressed from both maternal and paternal alleles. Imprinted genes show expression from only one member of the gene pair (allele) and their expression are determined by the...

Share

Read the Article

Courtesy of THE LIBRARY OF VIRGINIA

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics