Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type

L. Van Maldergem, Ann B. Moser, M. F. Vincent, D. Roland, R. Reding, J. B. Otte, R. J. Wanders, E. Sokal

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)593-600
Number of pages8
JournalJournal of Inherited Metabolic Disease
Volume28
Issue number4
DOIs
StatePublished - Aug 2005

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Infantile Refsum's Disease
Peroxisomes
Living Donors
Phytanic Acid
Liver Transplantation
Siblings
Transplantation
Docosahexaenoic Acids
Interpersonal Relations
Bile Acids and Salts
Hearing
Fatty Acids
Diet
Serum

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

Cite this

Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type. / Van Maldergem, L.; Moser, Ann B.; Vincent, M. F.; Roland, D.; Reding, R.; Otte, J. B.; Wanders, R. J.; Sokal, E.

In: Journal of Inherited Metabolic Disease, Vol. 28, No. 4, 08.2005, p. 593-600.

Research output: Contribution to journalArticle

Van Maldergem, L. ; Moser, Ann B. ; Vincent, M. F. ; Roland, D. ; Reding, R. ; Otte, J. B. ; Wanders, R. J. ; Sokal, E. / Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type. In: Journal of Inherited Metabolic Disease. 2005 ; Vol. 28, No. 4. pp. 593-600.
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