TY - JOUR
T1 - Zellweger spectrum disorders: clinical overview and management approach
AU - Klouwer, Femke C. C.
AU - Berendse, Kevin
AU - Ferdinandusse, Sacha
AU - Wanders, Ronald J. A.
AU - Engelen, Marc
AU - Poll-The, Bwee Tien
PY - 2015
Y1 - 2015
N2 - Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical and biochemical continuum which can roughly be divided into three clinical phenotypes. Patients can present in the neonatal period with severe symptoms or later in life during adolescence or adulthood with only minor features. A defect of functional peroxisomes results in several metabolic abnormalities, which in most cases can be detected in blood and urine. There is currently no curative therapy, but supportive care is available. This review focuses on the management of patients with a ZSD and provides recommendations for supportive therapeutic options for all those involved in the care for ZSD patients
AB - Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical and biochemical continuum which can roughly be divided into three clinical phenotypes. Patients can present in the neonatal period with severe symptoms or later in life during adolescence or adulthood with only minor features. A defect of functional peroxisomes results in several metabolic abnormalities, which in most cases can be detected in blood and urine. There is currently no curative therapy, but supportive care is available. This review focuses on the management of patients with a ZSD and provides recommendations for supportive therapeutic options for all those involved in the care for ZSD patients
U2 - https://doi.org/10.1186/s13023-015-0368-9
DO - https://doi.org/10.1186/s13023-015-0368-9
M3 - Review article
C2 - 26627182
SN - 1750-1172
VL - 10
SP - 151
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
ER -