D-bifunctional protein deficiency

D-bifunctional protein (DBP) deficiency is an inherited disease characterized by neonatal low muscle tone, seizures, visual and hearing loss, developmental delays, and death usually by two years of age. DBP deficiency involves defects in the D-bifunctional protein that is involved in the breakdown of a specific type of fatty acids in the body called “very long-chain fatty acids” (VLCFA). The symptoms of DBP deficiency are due to the toxic build up of VLCFA, which causes damage in the cells, especially in the brain and liver. DBP deficiency is also known as peroxisomal bifunctional enzyme deficiency and pseudo-Zellweger syndrome. View testing options