One novel

Background: D-Bifunctional protein, also called D-peroxisomal bifunctional enzyme which is encoded by Case presentation: A 4-day-old female infant was admitted due to recurrent seizures for 3 days. Main clinical manifestations included facial dysmorphism, poor responsiveness, hypotonia, feeding difficulties, refractory seizures, bilateral hearing impairment, and an electroencephalogram (EEG) showing focal sharp waves generalizing to widespread discharges. Whole-exome sequencing revealed a homozygous mutation in the Conclusions: This article presents a case of a newborn who presented with hypotonia, feeding difficulties and refractory epilepsy shortly after birth, and was eventually diagnosed with D-bifunctional protein deficiency through whole-exome sequencing. The prognosis of this disease is poor, and symptomatic and supportive treatment is the main approach. Therefore, whole-exome sequencing is particularly important for definitive diagnosis when neonates present with generalized hypotonia, feeding difficulties and refractory epilepsy. In addition, a missense mutation [c.344A>T (p.Asp115Val)] is a newly discovered variant that deserve further study.