Posts Categorized: Part 06: DIAGNOSTIC APPROACHES

Noninvasive whole-genome fetal sequencing

Posted by & filed under Part 06: DIAGNOSTIC APPROACHES.

Approximately 10% of DNA floating freely in a pregnant woman’s plasma originates from the fetus that she carries. Analysis of cell-free fetal DNA in maternal plasma has formed the basis for the development of noninvasive prenatal genetic diagnostics for detection of fetal trisomies and specific paternally inherited mutations. Kitzman et al. in this study reconstructed […]

Treatable IEM causing intellectual disability

Posted by & filed under Part 06: DIAGNOSTIC APPROACHES, Treatment, Websites.

Dr. van Karnebeek and Dr. Stockler performed a systematic literature review for treatable inborn errors of metabolism causing intellectual disability. Recommendations for investigation of genetic causes of intellectual disability are usually based on the frequencies of single conditions and the yield of diagnostic methods. The objective of this manuscript was to identify all currently treatable […]

New method for Targeted Metabolomics

Posted by & filed under Part 06: DIAGNOSTIC APPROACHES.

Wei R, Li G, Seymour AB. High-Throughput and Multiplexed LC/MS/MRM Method for Targeted Metabolomics. Anal Chem. 2010 Jun 4.   This study describes a “high-throughput, sensitive, and reproducible method for target-based metabolomics studies” which can quantitatively profile hundreds of known metabolites. posted by Yannis Trakadis

Testing for IEMs by NMR

Posted by & filed under Part 02: PERSPECTIVES, Part 06: DIAGNOSTIC APPROACHES.

Anal Bioanal Chem. 2007 Jan;387(2):539-49. Epub 2006 Jul 5. Principal component analysis of urine metabolites detected by NMR and DESI-MS in patients with inborn errors of metabolism. Pan Z, Gu H, Talaty N, Chen H, Shanaiah N, Hainline BE, Cooks RG, Raftery D. This article provides further support to the idea that perhaps, in the […]

Urinary screening for Fabry disease

Posted by & filed under Newborn screening, Part 06: DIAGNOSTIC APPROACHES, Part 16: LYSOSOMAL DISORDERS.

Screening for Fabry disease on urine collected by filter paper might eventually become a reality with the method referred to in this short report: Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease C. Auray-Blais, D. Cyr, K. Mills, R. Giguère and R. Drouin J Inherit Metab […]

Book: Inborn Metabolic Diseases

Posted by & filed under Books, Part 06: DIAGNOSTIC APPROACHES.

The newest edition of one of the most clinically useful books in the field: Inborn Metabolic Diseases Diagnosis and Treatment 4th, rev. ed., 2006, XXII, 561 p., 65 illus., Hardcover ISBN-10: 3-540-28783-3 ISBN-13: 978-3-540-28783-4 On a related topic, see chapter 66 of OMMBID: Clinical Phenotypes: Diagnosis/Algorithms Authors: Jean-Marie Saudubray, Christiane Charpentier Thank you very much […]

Metabolic autopsy


J Pediatr. 2006 Jun;148(6):779-83. The value of the metabolic autopsy in the pediatric hospital setting. Ernst LM, Sondheimer N, Deardorff MA, Bennett MJ, Pawel BR.     In this review of 23 cases performed at the Children’s Hospital of Philadelphia, a metabolic autopsy permitted the identification of an undiagnosed metabolic disease in 18% of the […]

The Orphanet Journal of Rare Diseases

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Orphanet continues its quest to to improve the management and treatment of genetic, auto-immune or infectious rare diseases, rare cancers, or not yet classified rare diseases. It launched the Orphanet Journal of Rare Diseases. The editors in chief are Ségolène Aymé, Inserm, Hôpital Broussais; Bruno Dallapiccola, Istituto CSS-Mendel; and Dian Donnai,The Victoria University of Manchester. […]