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Very early treatment may be key to combatting inherited metabolic disorder

A European Journal of Neuroscience study suggests that it is critical to treat lysosomal storage disorders early, before symptoms arise. These genetic disorders, which are caused by the malfunction of enzymes that normally degrade various substances within cells, lead to numerous ailments including neurological problems.

Although few therapeutic options are available, clinical trials of treatments including lysosomal enzyme replacement are underway. Researchers who used enzyme replacement to treat mice with early, mid- and later-stages of a lysosomal storage disease found that treatment was most effecting in mice with very early-stage disease. Once symptoms arose, treatment was ineffective.

"Until newborn screening is available world-wide for these conditions, and children are diagnosed prior to symptoms appearing, it is critical that we continue to gather information regarding the reversibility, or not, of disease-based degenerative changes," said senior author Dr. Kim Hemsley.

Contact: Nicole Weingartner

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