Linga Reddy Kasula

D-Bifunctional Protein Deficiency in a Neonate, are We Missing?- A Case Series

Linga Reddy Kasula, Manasa Vengaladasu, Paramesh Pandala, Rakesh Kotha & Alimelu Madireddy · Asian Journal of Pediatric Research · 2023

D-bifunctional protein deficiency (D-BP) is an extremely rare autosomal recessive peroxisomal disorder caused by a mutation in the HSD17B4 (5q23.1) gene. In this case series, we report three cases in which clinical signs appeared during the neonatal period. Two cases had early se...