Doug Treco, PhD, CEO of Inozyme Pharma, provides an overview of ENPP1 Deficiency and ABCC6 Deficiency.
ENPP1
ENPP1 Deficiency is a rare metabolic disease caused by mutations in the ENPP1 enzyme. This enzyme is responsible for the cleavage of ectonucleotides that prevent mineralization. In ENPP1 Deficiency, calcium phosphate precipitates throughout the body, accumulating in the wrong places such as blood vessels, skin, eyes, joints, and tendons. As Dr. Treco explains, this is due to low levels of pyrophosphate and ATP production.
Pyrophosphate is also essential in the formation of the skeletal system. Insufficient pyrophosphate can lead to skeletal abnormalities such as rickets and soft bone. Patients with ENPP1 Deficiency also commonly experience walking and mobility issues, pain, inflammation, and bones that fracture easily. Adults may also experience hearing loss, arterial calcification, and cardiac and/or neurological involvement. Approximately half of infants with ENPP1 Deficiency die within six months of birth.
There are no approved therapies for ENPP1 Deficiency.
ABCC6
ABCC6 Deficiency is a rare metabolic disease caused by mutations in the ABCC6 gene, the gene responsible for transporting ATP from the inside of cells to the outside. Mutations cause reduced levels of systemic ATP, leading to low levels of pyrophosphate and adenosine in the blood. As Dr. Treco explains, due to its similarity to ENPP1 Deficiency, many patients experience identical symptoms and difficulties.
There are no approved therapies for ABCC6 Deficiency.
Enzyme replacement therapies are currently being researched to reverse effects of these diseases.
To learn more about rare metabolic diseases, visit https://checkrare.com/diseases/metabolic-disorders/