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REVIEW FOR THE SHEIKH HAMDAN BIN RASHID AL MAKTOUM AWARD FOR MEDICAL SCIENCES
Year : 2012  |  Volume : 5  |  Issue : 3  |  Page : 327-332

Pathway-restoring therapies – an update on serine and on mannose treatment


Centre for Metabolic Disease, University Hospital Gasthuisberg, Leuven, Belgium

Correspondence Address:
Jaak Jaeken
Centre for Metabolic Disease, University Hospital Gasthuisberg, Herestraat 49, BE3000 Leuven
Belgium
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Source of Support: None, Conflict of Interest: None


DOI: 10.7707/hmj.v5i3.188

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This review is devoted to the treatment of five disorders: three disorders of serine biosynthesis, one in the first step of the sphingolipid biosynthesis (using serine) and one in the mannose pathway. The serine biosynthesis pathway and the mannose pathway are both side-branches of the glycolytic pathway. The feature that they have in common is that they are efficiently treatable by simple and natural molecules, serine and mannose respectively. This treatment bypasses the defect, thus restoring the pathway. This review summarizes their clinical features and provides an update on their treatment.


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