BCKDK gene mutations as a rare condition responsible for comorbid neurodevelopmental delay, autism, and epilepsy: a case series of four patients
The diagnosis of BCKDK deficiency should be suspected in patients with NDD and autism, and BCAA supplementation should be initiated as soon as diagnosis confirmation to prevent irreversible brain damage. The results emphasize that early diagnosis and dietary intervention by regulating plasma BCAA levels lead to the prevention of irreversible neurodevelopmental implications.
Authors
- Parvaneh Karimzadeh (ORCID: https://orcid.org/0000-0002-6302-9973)
- Behnoosh Tasharrofi (ORCID: https://orcid.org/0009-0000-6918-0351)
- Hossein Najmabadi (ORCID: https://orcid.org/0000-0002-6084-7778)
- Maryam Kachuei (ORCID: https://orcid.org/0000-0001-5456-9743)
- Mohammad Keramatipour (ORCID: https://orcid.org/0000-0003-4494-6220)
- Mohammad Rezazadeh (ORCID: https://orcid.org/0009-0004-6570-927X)
- Fatemeh KamaliTabar
Institutions
- Iran University of Medical Sciences (IR)
- Imam Hossein Hospital (IR)
- University of Social Welfare and Rehabilitation Sciences (IR)
- Shahid Beheshti University of Medical Sciences (IR)
- Tehran University of Medical Sciences (IR)
Publication Details
- Journal
- Annals of Medicine and Surgery
- Published
- 2025-06-16
- DOI
- https://doi.org/10.1097/ms9.0000000000003460
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00