PRODH : proline dehydrogenase 1

Proline Dehydrogenase: A Key Player in Energy Metabolism and Amino Acid Conversion

Description

The PRODH gene encodes the enzyme proline dehydrogenase (PDH), which is primarily found in the brain, lungs, and muscles. Within cells, PDH resides in mitochondria, the energy-producing organelles. Its primary function is to initiate the breakdown of proline, an amino acid that plays a crucial role in protein synthesis and energy transfer.

Associated Diseases

Mutations in the PRODH gene can lead to proline dehydrogenase deficiency, a rare genetic condition characterized by:

• Intellectual disability and developmental delays
• Epilepsy
• Autism spectrum disorder
• Movement disorders
• Respiratory difficulties

Did you Know ?

Proline dehydrogenase deficiency is estimated to affect approximately 1 in 100,000 individuals worldwide.