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Estibaliz Urarte
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Early treatment of BCKDK deficiency significantly improves its symptoms

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A study coordinated by the Sant Joan de Déu Research Institute shows that heal prick screening can be used for the early detection of this syndrome.

Branched-chain ketoacid dehydrogenase kinase deficiency, or BCKDK deficiency, is caused by a mutation in this enzyme. This mutation results in a lower production of biomolecules known as branched-chain amino acids or BCAAs. BKCKD deficiency is associated with autism, epilepsy, intellectual disability, or motor impairment. It is a neurometabolic disorder with a very low prevalence.

Recently, a study led by Àngels García-Cazorla, a researcher at the Sant Joan de Déu Research Institute, has shown that changes in the diet in patients diagnosed from the age of four help alleviate their symptoms. The article, published in the prestigious Brain Journal, gathers information from 21 patients with this disease. One of its main conclusions is that early treatment with dietary modifications significantly improves the symptoms. Patients, who were eight months to sixteen years of age, were supplemented with branched-chain amino acids and underwent a high-protein diet. Researchers observed increased BCAA blood BCAA levels, and motor functions and head circumference were improved or stabilised. None of the three patients who started treatment before their second birthday developed autism.

Àngels García-Cazorla points out that one of the patients, who began treatment a few months after she was born, practically normalised her situation. In older patients, the improvement was more subtle. This supports the inclusion of this disease in newborn screening, for it is evident that early detection and dietary intervention at an early stage can prevent or mitigate the development of intellectual disability and other symptoms that significantly affect the quality of life of these children.

*Original source: An early diagnosis and some diet changes can decrease the risk of severe symptoms in children with BCKDK metabolic deficiency