Diagnosis and follow-up of a case of peroxisomal disorder with peroxisomal mosaicism

Mercedes Pineda, Marisa Girós, Frank Roels, Marc Espeel, Montserrat Ruiz, Ann Moser, Hugo W. Moser, Ronald J.A. Wanders, Carlos Pavia, Juan Conill, Asunción Aracil, Luis Amat, Teresa Pampols

Research output: Contribution to journalArticlepeer-review


Peroxisomal disorder phenotypes are the result of mutations that cause defective peroxisomal assembly or alterations in the import mechanism of peroxisomal proteins that lead to multiple peroxisomal dysfunctions, or the result of a peroxisomal enzymatic deficiency with a single peroxisomal dysfunction. With complementation analysis, 16 groups have been found. Assignment of the genetic defect has been described for some of the complementation groups. We describe the clinical evolution and follow-up over 10 years of a patient who belongs to complementation group 4, although he showed a milder clinical course. It has been found in fibroblasts different peroxisome populations, normal processing and expression of β-oxidation PTS1 and PTS2 proteins, abnormal ALD protein distribution and normal plasmalogen biosynthesis; abnormal β-oxidation metabolites have also been detected in serum. Ultrastructural studies in liver showed peroxisomal mosaicism as in fibroblasts. It has been taken into account that peroxisomal mosaicism may lead to variability in peroxisomal diagnostic parameters, making difficult the final diagnosis in these patients.

Original languageEnglish (US)
Pages (from-to)434-439
Number of pages6
JournalJournal of child neurology
Issue number7
StatePublished - Jul 1999

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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