D-bifunctional protein (DBP) deficiency is a fatal autosomal recessive peroxisomal enzyme deficiency disease characterized by hypotonia, seizures, craniofacial dysmorphisms, psychomotor delay, deafness, and blindness in the neonatal period, with mortality generally occurring by two years of age [1]. This evidence concerns the gene HSD17B4 and hyperinsulinemic hypoglycemia, familial, 4.