ACAD8 : acyl-CoA dehydrogenase family member 8

The Intriguing World of the ACAD8 Gene: Unlocking Cellular Energy and Health

Description:

Nestled within our genetic blueprint, the ACAD8 gene holds the blueprint for creating an essential enzyme known as isobutyryl-CoA dehydrogenase (IBD). This enzyme resides in the mitochondria, the cellular powerhouses that generate energy for our biological processes. The primary responsibility of IBD lies in the intricate breakdown of proteins from our dietary intake.

Associated Diseases:

Mutations in the ACAD8 gene can lead to a rare genetic disorder known as isobutyryl-CoA dehydrogenase (IBD) deficiency. This condition disrupts the normal breakdown of the amino acid valine, leading to the accumulation of toxic metabolites in the body. Symptoms of IBD deficiency can include seizures, developmental delays, and life-threatening metabolic crises.

Did you Know ?

According to the National Organization for Rare Disorders (NORD), IBD deficiency affects approximately 1 in 50,000 newborns worldwide. Its rarity highlights the importance of genetic testing and early diagnosis to ensure timely intervention and management.