The mutation prevents certain amino acids from entering neurons, causing the cells to die early in development.
Spectrum: Autism Research News
Early treatment with nutritional supplements and a high-protein diet forestalls some neurodevelopmental problems for children with BCKDK deficiency.
The drug quells seizures in children with Dravet syndrome or Lennox-Gastaut syndrome.
Swiss biotech Stalicla hopes to bring precision medicine to autism. Experts praise efforts to identify autism subgroups, but evidence to support the company’s claims has yet to be seen.
Overexpressing genes involved in the pathway, which regulates protein quality, changes repetitive behaviors in the animals.
Clues that problems with mitochondria contribute to autism have been accumulating for decades. In the past five years, a mutant mouse and a flurry of findings have energized the field.
No diet is likely to treat autistic people on a large scale, but diets based on a genetic profile may bring big benefits to a few.
The levels of four chemicals in the brain may distinguish autism and vary with its severity, according to a new study.
Doctors can now order a blood test that its makers say may help flag autism, but experts say the test is not appropriate for use in clinics.