Treatable IEM causing intellectual disability

• February 16th, 2012

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 inborn errors of metabolism presenting with predominantly intellectual disability so that availability of treatment is also factored in the recommendations. The authors applied Cochrane Collaboration guidelines in formulation of PICO and definitions, and searched in Pubmed (1960-2011) and relevant (online) textbooks to identify ‘all inborn errors of metabolism presenting with intellectual disability as major feature’. 81 ‘treatable inborn errors of metabolism’ presenting with intellectual disability as a major feature were identified. 62% (n=50) of all disorders are identified by metabolic screening tests in blood (plasma amino acids, homocysteine) and urine (creatine metabolites, glycosaminoglycans, oligosaccharides, organic acids, pyrimidines). For the remaining disorders (n=31) a ‘single test per single disease’ approach is required. The levels of available evidence for the various treatments ranged from Level 1b,c (n=5); Level 2a,b,c (n=14); Level 4 (n=45), Level 4-5 (n=27). The results of this work were translated into digital information tools for the clinician (www.treatable-id.org).  

Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review. van Karnebeek CD, Stockler S. Mol Genet Metab. 2011 Nov 30. [Epub ahead of print] PMID: 22212131

posted by Yannis Trakadis MD, MSc

New method for Targeted Metabolomics

• June 14th, 2010

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

• March 22nd, 2007

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 future, we will be performing part of the screening for inborn errors of metabolism by nuclear magnetic resonance (NMR). In this article, the authors used NMR and desorption electrospray ionization mass spectrometry to succesfully identify abnormal concentrations of metabolites in samples from patients with samples from individual patients with argininosuccinic aciduria, classic homocystinuria, classic methylmalonic acidemia, maple syrup urine disease, phenylketonuria and tyrosinemia type II.

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Urinary screening for Fabry disease

• December 28th, 2006

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 Dis, January 2007

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Book: Inborn Metabolic Diseases

• December 27th, 2006

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

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Metabolic autopsy

• December 25th, 2006

J Pediatr. 2006 Jun;148(6):779-83.

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 cases.

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

The Orphanet Journal of Rare Diseases

• July 13th, 2006

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.

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator