D-Bifunctional Protein Deficiency

D-Bifunctional Protein Deficiency

D-Bifunctional protein deficiency is a rare genetic disorder affecting peroxisomal fatty acid oxidation, leading to severe neurological impairments and developmental delays. Symptoms typically present in infancy and include hypotonia, seizures, and liver dysfunction. Diagnosis is confirmed through genetic testing. Unfortunately, there is currently no cure for D-bifunctional protein deficiency.