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Diagnosis and Follow-Up of a Case of Peroxisomal Disorder With Peroxisomal Mosaicism

S. Neurologia y Pediatria, Hospital Sant Joan de Déu Barcelona, Spain, pineda{at}hsjdbcn.or

Marisa Girós, PhD

Institut de Bioquimica Clínica Barcelona, Spain

Frank Roels, MD, PhD

Department of Human Anatomy, Embryology, and Histology, University of Ghent Ghent, Belgium

Marc Espeel, PhD

Department of Human Anatomy, Embryology, and Histology, University of Ghent Ghent, Belgium

Montserrat Ruiz, PhD

Institut de Bioquimica Clínica Barcelona, Spain

Ann Moser, AB

Kennedy Krieger Institute Baltimore, MA

Hugo W. Moser, MD

Kennedy Krieger Institute Baltimore, MA

Ronald J. A. Wanders, PhD

Wihelmina Children's Hospital Utrecht, The Netherlands

Carlos Pavia, MD, PhD

S. Neurologia y Pediatria, Hospital Sant Joan de Déu Barcelona, Spain

Juan Conill, MD

S. Neurologia y Pediatria, Hospital Sant Joan de Déu Barcelona, Spain

Asunción Aracil, MD

S. Neurologia y Pediatria, Hospital Sant Joan de Déu Barcelona, Spain

Luis Amat, MD

S. Neurologia y Pediatria, Hospital Sant Joan de Déu Barcelona, Spain

Teresa Pampols, PhD

Institut de Bioquimica Clínica Barcelona, Spain

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 ß-oxidation PTS1 and PTS2 proteins, abnormal ALD protein distribution and normal plasmalogen biosynthesis; abnormal ß-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.(J Child Neurol 1999;14:434-439).

Journal of Child Neurology, Vol. 14, No. 7, 434-439 (1999)
DOI: 10.1177/088307389901400705


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