Transaldolase deficiency

• May 21st, 2008

Mol Genet Metab. 2008 Jun;94(2):255-8. Epub 2008 Mar 10.

Transaldolase deficiency in a two-year-old boy with cirrhosis.

Wamelink MM, Struys EA, Salomons GS, Fowler D, Jakobs C, Clayton PT.

In this brief communication, the authors describe a new patient with transaldolase deficiency, with hematological, renal and hepatic manifestations. They also review previously reported cases of this recently described condition.

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Click this link to see the most recent online abstracts of major genetics journals.
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Cornstarch intervals

• February 2nd, 2007

I was surprised to see the post stating that older GSD type 1 patients can last 7 hours with a single dose of bedtime cornstarch. Our experience, as well as that of many other families, is that metabolic control is compromised if doses are not delivered Q 4 hours. This has been confirmed by inpatient studies on metabolic units. Even though the patient may be within acceptable limits at the end of the extended time period, studies have shown that there are periods of frank hypoglycemia occuring within the extended time period, and that lactate levels are elevated. Despite the sleep disruption we have elected to keep our child (now aged 15) on a 4 hour overnight schedule.

Comment by GSDmom about excerpt on GSD treatment from OMMBID included in this comment.

New IEM: Dolichol Phosphate Synthesis defect

• February 2nd, 2007

Four patients from 2 different families were identified with a new inborn error of metabolism: a defect in the biosynthesis of Dolichol Phosphate.

Frequent features include ichtyosis, hypotonia and dilated cardiomyopathy. Transferin isoelectric focusing was abnormal.

For more details, see the article and website:

A Defect in Dolichol Phosphate Biosynthesis Causes a New Inherited Disorder with Death in Early Infancy

Christian Kranz, Christoph Jungeblut, Jonas Denecke, Anne Erlekotte, Christina Sohlbach, Volker Debus, Hans Gerd Kehl, Erik Harms, Anna Reith, Sonja Reichel, Helfried Gröbe, Gerhard Hammersen, Ulrich Schwarzer, and Thorsten Marquardt

The American Journal of Human Genetics, volume 80, March 2007

Website with movie.

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

Gene therapy for GSD-1a

• June 8th, 2006

Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia.
Koeberl DD, Sun BD, Damodaran TV, Brown T, Millington DS, Benjamin DK, Bird A,
Schneider A, Hillman S, Jackson M, Beaty RM, Chen YT.
Gene Ther. 2006 May 4

This group describes the IV administration of a pseudotyped AAV8 vector for the correction of glycogen storage disease 1a in a mouse model. Partial biochemical correction was sustained up to 7 months after the administration.

For more information on GSD-1a, please see chapter 71.

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