OchCDD

OchCDD, an acronym for "Ochre Cell Disease with CDD," is a rare genetic disorder characterized by the accumulation of ochre cells in the liver and other organs, accompanied by the presence of CDD (Ceroid Dystrophy Disease). This condition is primarily associated with mutations in the ABCB4 gene, which encodes for the multidrug resistance protein 3 (MDR3). The ochre cells are lipid-laden macrophages that are typically found in the liver and spleen, and their accumulation is a hallmark feature of OchCDD.

The disease manifests in infancy or early childhood, with symptoms including liver dysfunction, splenomegaly (enlarged spleen), and neurological abnormalities. The neurological symptoms can range from mild to severe, including developmental delays, seizures, and movement disorders. The diagnosis of OchCDD is typically made through genetic testing, which identifies mutations in the ABCB4 gene.

There is currently no cure for OchCDD, and treatment is primarily supportive, focusing on managing symptoms and preventing complications. This may include medications to control seizures, dietary management to support liver function, and regular monitoring of organ function. Research into the underlying mechanisms of OchCDD and potential therapeutic interventions is ongoing, with the hope of improving outcomes for affected individuals in the future.