TY - JOUR
T1 - Diagnosis and follow-up of a case of peroxisomal disorder with peroxisomal mosaicism
AU - Pineda, Mercedes
AU - Girós, Marisa
AU - Roels, Frank
AU - Espeel, Marc
AU - Ruiz, Montserrat
AU - Moser, Ann
AU - Moser, Hugo W.
AU - Wanders, Ronald J.A.
AU - Pavia, Carlos
AU - Conill, Juan
AU - Aracil, Asunción
AU - Amat, Luis
AU - Pampols, Teresa
PY - 1999/7
Y1 - 1999/7
N2 - 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.
AB - 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.
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U2 - 10.1177/088307389901400705
DO - 10.1177/088307389901400705
M3 - Article
C2 - 10573465
AN - SCOPUS:0032782839
SN - 0883-0738
VL - 14
SP - 434
EP - 439
JO - Journal of child neurology
JF - Journal of child neurology
IS - 7
ER -