Rare bleeding disorder database

Posted by & filed under Part 19: BLOOD, Websites.

The primary aim of database is to determine the distribution of each rare bleeding disorder in the world, and their available treatments.

Please visit www.rbdd.org to participate in the database.

For more information on rare bleeding disorders, please visit OMMBID Part 19: Chapters 169 – 183.

Thank you very much in advance for your contributions to this blog.

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

Functional human gene network application

Posted by & filed under Part 03: GENERAL THEMES.

Reconstruction of a Functional Human Gene Network, with an Application for Prioritizing Positional Candidate Genes

Lude Franke et al.
Am. J. Hum. Genet., 78:1011-1025, 2006

This article describes a computer application which can prove useful to identify candidate genes for complex disoders.

Thank you very much in advance for your contributions to this blog.

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

New peroxisomal beta-oxidation defect

Posted by & filed under Part 15: PEROXISOMES.

Mutations in the Gene Encoding Peroxisomal Sterol Carrier Protein X (SCPx) Cause Leukencephalopathy with Dystonia and Motor Neuropathy

S. Ferdinandusse et al.

Am. J. Hum. Genet., 78:1046-1052, 2006

This group describes a patient with a deficiency of sterol carrier protein X (SCPx), a peroxisomal enzyme with thiolase activity, which is required for the breakdown of branched-chain fatty acids.

For more information on Single Peroxisomal Enzyme Deficiencies, please see OMMBID Chapter 130.

Thank you very much for your contribution to this blog.

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

Mucolipidosis II and mucolipidosis IIIA gene

Posted by & filed under Part 16: LYSOSOMAL DISORDERS.

Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical
pseudo-hurler polydystrophy) are caused by mutations in the
GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.

Kudo M, Brem MS, Canfield WM

Am J Hum Genet. 2006 Mar;78(3):451-63.

For more information on Mucolipidosis II and mucolipidosis IIIA, please visit OMMBID Chapter 138.

Thank you very much in advance for your contributions to this blog.

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

Type 2 Gaucher disease

Posted by & filed under Part 16: LYSOSOMAL DISORDERS.

Type 2 Gaucher disease: 15 new cases and review of the literature.

Mignot C et al. Brain Dev. 2006 Jan;28(1):39-48

This important article extends our clinical knowledge on this entity, and summarizes previous reports.

For more information on Gaucher disease, please see OMMBID Chapter 146 and OMMBID Chapter 146.1.

Thank you very much in advance for your contributions to this blog.

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

6th European metabolic course

Posted by & filed under Courses.

Orphan Europe Academy will be holding its 6th European metabolic course 8-12 November 2006 in Barcelona. Please visit www.orphan-europe-academy.com for more details.

Thank you very much in advance for your contributions to this blog.

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

BIMDG Annual Symposium

Posted by & filed under Meetings.

The British inherited metabolic disease group will be holding its 2006 symposium at Southampton University, Highfield, Southampton on Thursday 6th – Friday 7th July 2006.

Please visit www.bimdg.org.uk for more details.

Thank you very much in advance for your contributions to this blog.

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

Garrod Association of Canada Symposium

Posted by & filed under Meetings.

The Canadian Association of Centres for the Management of Hereditary Metabolic Diseases (Garrod Association), will be holding its 2006 symposium in Halifax, Nova Scotia, May 12th-13th. Please visit www.garrod.ca for more details.

Thank you very much in advance for your contributions to this blog.

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

Non-immune hydrops fetalis

Posted by & filed under Part 16: LYSOSOMAL DISORDERS.

A number of inborn errors of metabolism have been associated with hydrops fetalis, and some centers screen affected patients for lysosomal storage disease. Could you describe which screening tests you use for affected patients?

To learn more about lysosomal disorders, see OMMBID Part 16: Chapters 134-154.

Thank you very much for your contribution.

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

Coenzyme Q10 deficiency

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION.

The first defect in coenzyme Q10 (ubiquinone) biosynthesis has been attributed to mutations in COQ2, encoding Para-Hydroxybenzoate-Polyprenyl Transferase. Patients with primary CoQ10 deficiency can present with myopathy, cerebellar involvement, generalized encephalopathy, and/or renal involvement. Analysis of respiratory chain enzyme activities reveal normal levels of the complexes taken individually, but low levels of complexes I+III and of complexes II+III. See article by Quinzii, C.

For more information on mitochondrial respiratory chain defects, see OMMBID Chapter 104.

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