First Japanese case of Zellweger syndrome with a mutation in PEX14

Shoko Komatsuzaki, Eishin Ogawa, Nobuyuki Shimozawa, Osamu Sakamoto, Kazuhiro Haginoya, Mitsugu Uematsu, Yuki Hasegawa, Yoichi Matsubara, Toshihiro Ohura

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)


Zellweger syndrome, one of the peroxisome biogenesis disorders, is an autosomal recessive disease caused by mutations in PEX genes. It is characterized by severe hypotonia, failure to thrive, psychomotor retardation, liver dysfunction, and sensorineural hearing impairment. Most of the patients with this disease die before the age of 1 year. PEX14 is the 13th PEX gene responsible for peroxisome biogenesis disorders. Thus far, only two patients with PEX14 deficiency have been reported. Here, we report the first case of a Japanese patient with a PEX14 mutation who showed severe hypotonia, psychomotor retardation, demyelination, and developed rickets at the age of 5 months. An increased excretion of 3,6-epoxydicarboxylic acids leads to the diagnosis of Zellweger syndrome and a mutation analysis of PEX14 revealed a homozygous mutation of c.538C>T (p.Q180X). The patient survived for a prolonged period of time but died of liver failure at the age of 46 months.

Original languageEnglish
Pages (from-to)1189-1192
Number of pages4
JournalPediatrics International
Issue number6
Publication statusPublished - 2015 Dec 1


  • 3,6-epoxydicarboxylic acid
  • PEX14
  • Zellweger syndrome
  • demyelination
  • peroxisome biogenesis disorders

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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