First Case of Peroxisomal D-bifunctional Protein Deficiency with Novel <i>HSD17B4</i> Mutations and Progressive Neuropathy in Korea
Eun Young Bae, Yoon Young Yi, Han Hyuk Lim, Jiwon M. Lee, Bongjin Lee, Seung Yeon Kim, Yoo‐Mi Kim
Abstract
gene were identified. The patient had type III DBP deficiency; therefore, docosahexaenoic acid and non-soluble vitamins were administered. However, progressive nystagmus, optic nerve atrophy, and bilateral hearing defects were observed and follow-up brain imaging revealed leukodystrophy and brain atrophy. Multiple anti-epileptic drugs were required to control the seizures. Over two years, the patient achieved normal growth with home ventilation and tube feeding. Hereby, the subject's parents had support during the second pregnancy from the proven molecular information. Moreover, targeted exome sequencing is an effective diagnostic approach, considering genetic heterogeneity of Zellweger spectrum disorders.