KAT6A syndrome is a rare genetic condition as a result of a mutation in the KAT6A gene. That gene produces the KAT6A protein that is instrumental in DNA packaging and the production of other proteins in the cell.

It is an extremely rare condition with only 195 patients around the world currently diagnosed with the condition.

Recently, we talked with Natacha Esber, MD, Director of the Research and Scientific Committee for the KAT6a Foundation.

As Dr. Esber notes in this interview, the pathophysiology and limited number of people currently known to have the disease means that it is difficult to characterize a typical KAT6A syndrome child. However, common symptoms often include developmental delay, intellectual disability, gastrointestinal problems (feeding difficulties, constipation, acid reflux), speech and language deficits, vision problems, and hypotonia.

The current treatment options are limited to managing the symptoms (physical therapy, occupational therapy, etc) but studies are underway at various institutions (e.g., UCLA, Johns Hopkins University, McGill University, etc) to better understand this condition.

Dr. Esber also notes that a ‘mitochondrial cocktail’ may help some children.

For more information, visit http://www.kat6a.org/

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