孤独症精准治疗体系-Precision Autism Treatment

Example

Identification of BCKDK deficiency in ASD patients, enabling specific amino acid supplementation to prevent or mitigate symptoms 【13†source】.

Scenario

In a child with developmental delays and autistic features, a diagnosis of BCKDK deficiency is made, and targeted nutritional intervention is initiated.

Example

Adjustment of treatment protocols based on individual genetic profiles, such as implementing a high-protein diet and BCAA supplements for BCKDK-deficient patients【14†source】.

Scenario

For a patient with BCKDK deficiency and epilepsy, a customized diet rich in proteins and BCAAs is provided, improving seizure control and developmental skills.

Example

Regular monitoring and adjusting treatments, like modifying the BCAA dosage for optimal seizure management and cognitive development in patients【14†source】.

Scenario

Continuous evaluation and adjustment of BCAA dosage in an ASD patient with BCKDK deficiency to maintain effective plasma BCAA levels and manage seizures.