Mucolipidosis II and mucolipidosis IIIA gene

• April 30th, 2006

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

• April 30th, 2006

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

• April 30th, 2006

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

• April 30th, 2006

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

• April 30th, 2006

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

• April 8th, 2006

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

• April 3rd, 2006

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

ICIEM

• April 3rd, 2006

The deadline for abstract submission for the 10^th International Congress of Inborn Errors of Metabolism, September 2006 in Japan, has been extended to April 10th. Please visit: www.iciem2006.org

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