Font: https://elpais.com/ciencia/2023-09-20/el-tratamiento-precoz-clave-para-encontrar-una-cura-para-el-autismo.html

Before starting, we must clarify:

What is BCKDK? Branched-chain amino acid dehydrogenase kinase deficiency.

BCAAs are essential amino acids involved in vital cellular reactions such as regulating protein turnover, autophagy signaling, and mitochondrial function. Furthermore, its metabolism is coupled to that of the neurotransmitter glutamate.

Branched-chain ketoacid dehydrogenase (BCKDH) is a mitochondrial enzyme complex composed of four catalytic subunits E1α, E1β, E2-DBT and E3-DLD. It is regulated by two enzymes: phosphorylase kinase that inactivates it and a phosphatase that activates it.

When BCAA levels are excessive, the BCKDH complex is in its active form and catabolizes BCAAs which, in high concentrations (especially leucine), are toxic to the brain.

BCKDK gene deficiency is a rare disease that affects amino acid metabolism. This disease can cause a number of health problems, including developmental delay, motor problems, and autism spectrum disorders.

In a new study, researchers have found that a treatment based on the administration of missing amino acids can improve the symptoms of BCKDK deficiency.

The study, led by Dr. Ángeles García-Cazorla from Hospital Sant Joan de Deu in Barcelona, Spain, included 21 BCKDK-deficient children between 8 and 16 months of age. The children received a food supplement containing the missing amino acids, leucine, valine and isoleucine.

Results

The results of the study showed that children who received the dietary supplement experienced a number of improvements, including:

• Growth in head size, indicating a proliferation of neurons
• Improvements in motor skills
• Language development

Children who started treatment before two years of age showed the best results.

The results of this study are very promising and suggest that treatment with missing amino acids may be a new therapeutic option for BCKDK deficiency.

The researchers recommend that more studies be conducted to confirm the results of this study and to evaluate the effectiveness of the treatment in older children. They also recommend that BCKDK deficiency be considered for inclusion in neonatal screening.

It is hoped that the results will be validated in future studies. If so, they hope national health policies will be changed to require that all babies be screened for BCKDK deficiency at birth.

This new treatment could offer hope for children with BCKDK deficiency. If its effectiveness is confirmed, it could help prevent diseases and allow the treatment of neurodevelopmental pathologies.

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