title: Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type.
abstract: Peroxisomal biogenesis defects include a number of severe neurodevelopmental disorders, among which infantile Refsum disease (IRD) occupies the mildest end of the spectrum. Although high docosahexaenoic acid (DHA) and low phytanic acid diets can correct some of the biochemical defects, they have not consistently altered the progressive course of the disease. We carried out orthotopic liver transplantation (OLT) in a mildly symptomatic 6-month-old infant who was a sibling of a severely neurologically impaired older sister. After transplantation the clinical course of this young child appeared much improved by comparison to her older sister. She walked alone at 4 years, had acceptable social interaction and had a noticeable recovery of audition. After transplantation her biochemical parameters were significantly improved: phytanic acid and very long-chain fatty acid (VLCFA) serum concentrations decreased. Abnormal bile acids disappeared from plasma. Although the OLT did not result in a cure of the disorder, the clinical and biochemical results suggest that OLT should be considered in mildly symptomatic patients.
authors.affiliation: Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Loverval, Belgium. vmald@skypro.be
authors.forename: L
authors.initials: L
authors.lastname: Van Maldergem
authors.forename: A B
authors.initials: AB
authors.lastname: Moser
authors.forename: M-F
authors.initials: MF
authors.lastname: Vincent
authors.forename: D
authors.initials: D
authors.lastname: Roland
authors.forename: R
authors.initials: R
authors.lastname: Reding
authors.forename: J-B
authors.initials: JB
authors.lastname: Otte
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: E
authors.initials: E
authors.lastname: Sokal
mesh_terms: D000074183:ATPases Associated with Diverse Cellular Activities; D001647:Bile Acids and Salts / Q000378:metabolism; D004281:Docosahexaenoic Acids / Q000378:metabolism; D005192:Family Health; D005227:Fatty Acids / Q000097:blood; D005260:Female; D006801:Humans; D007223:Infant; D016031:Liver Transplantation / Q000379:methods*; D019520:Living Donors; D008565:Membrane Proteins / Q000235:genetics; D009123:Muscle Hypotonia / Q000473:pathology; D018901:Peroxisomal Disorders / Q000473:pathology* / Q000628:therapy*; D020675:Peroxisomes / Q000378:metabolism*; D010831:Phytanic Acid / Q000097:blood / Q000378:metabolism; D013997:Time Factors
chemical_list: D001647:Bile Acids and Salts; D005227:Fatty Acids; D008565:Membrane Proteins; D010831:Phytanic Acid; D004281:Docosahexaenoic Acids; D000074183:ATPases Associated with Diverse Cellular Activities; C111808:PEX1 protein, human