{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T20:55:14Z","timestamp":1780606514904,"version":"3.54.1"},"reference-count":15,"publisher":"American Academy of Pediatrics (AAP)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,6,1]]},"abstract":"<jats:p>Infantile Refsum disease (IRD) is a rare autosomal recessive disorder of peroxisome biogenesis characterized by generalized peroxisomal metabolic dysfunction, including accumulation of very long-chain fatty acids (VLCFAs) and phytanic acid (PA), as well as decreased plasmalogen contents (PL). An effective therapy for this intractable disease has not been established, and only supportive management with docosahexaenoic acid supplementation and low PA diet has been reported so far. A boy of 3 years and 8 months presented with facial dysmorphism, transaminitis, and psychomotor retardation. Biochemical analysis showed elevated PA and VLCFAs, with reduced PL in the serum. Immunofluorescence study of fibroblasts from the patient indicated a mosaic pattern of catalase-positive and -negative particles, and molecular analysis revealed compound heterozygous mutations of PEX6. The failure of medical management to prevent the progression of clinical symptoms and abnormal biochemistry prompted us to consider liver transplantation (LT). With the chances of receiving a deceased donor liver being poor, we performed a living-donor LT from the patient\u2019s heterozygous mother. At 6-month follow-up, the patient\u2019s serum PA levels had normalized. VLCFAs and PL levels had declined and increased, respectively. To the best of our knowledge, this is the second reported case in which IRD was treated by living-donor LT by using a heterozygous donor. Only long-term follow-up will reveal if there is any clinical improvement in the present case. With the liver being a major site for peroxisomal pathways, its replacement by LT may work as a form of partial enzyme therapy for patients with IRD.<\/jats:p>","DOI":"10.1542\/peds.2015-3102","type":"journal-article","created":{"date-parts":[[2016,5,24]],"date-time":"2016-05-24T12:12:19Z","timestamp":1464091939000},"source":"Crossref","is-referenced-by-count":17,"title":["Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease"],"prefix":"10.1542","volume":"137","author":[{"given":"Masatoshi","family":"Matsunami","sequence":"first","affiliation":[{"name":"Organ Transplantation Center, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuyuki","family":"Shimozawa","sequence":"additional","affiliation":[{"name":"Division of Genomics Research, Life Science Research Center, Gifu University, Gifu, Japan; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akinari","family":"Fukuda","sequence":"additional","affiliation":[{"name":"Organ Transplantation Center, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadayuki","family":"Kumagai","sequence":"additional","affiliation":[{"name":"Division of Neurology, National Center for Child Health and Development, Tokyo, Japan;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaya","family":"Kubota","sequence":"additional","affiliation":[{"name":"Division of Neurology, National Center for Child Health and Development, Tokyo, Japan;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pin Fee","family":"Chong","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Fukuoka Children\u2019s Hospital, Fukuoka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mureo","family":"Kasahara","sequence":"additional","affiliation":[{"name":"Organ Transplantation Center, and"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2016,6,1]]},"reference":[{"issue":"3","key":"2021120904504661200_B1","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1002\/ddrr.1113","article-title":"Peroxisome biogenesis disorders: biological, clinical and pathophysiological perspectives.","volume":"17","author":"Braverman","year":"2013","journal-title":"Dev Disabil Res Rev"},{"key":"2021120904504661200_B2","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1016\/B978-0-444-59565-2.00028-9","article-title":"Peroxisomal disorders","volume-title":"Pediatric Neurology: Part III. 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