The inborn errors of peroxisomal beta-oxidation: a review.
In recent years a growing number of inherited diseases in man have been recognized in which there is an impairment in peroxisomal beta-oxidation. In some diseases this is due to the (virtual) absence of peroxisomes leading to a generalized loss of peroxisomal functions including peroxisomal beta-oxidation. In most inborn errors of peroxisomal beta-oxidation, however, peroxisomes are normally present and the impairment in peroxisomal beta-oxidation is due to the single or multiple loss of peroxisomal beta-oxidation enzyme activities. In all these disorders there is accumulation of very-long-chain fatty acids in plasma, which allows biochemical diagnosis of patients affected by an inborn error of peroxisomal beta-oxidation to be done via gas-chromatographic analysis of plasma very-long-chain fatty acids. Subsequent enzymic and immunological investigations are required to identify the precise enzymic defects in these patients. In all inborn errors of peroxisomal beta-oxidation known today there are multiple abnormalities, especially neurological with death usually occurring in the first decade of life. Prenatal diagnosis of these disorders has recently become possible.
Wanders
R J
RJ
Department of Pediatrics, University Hospital Amsterdam, The Netherlands.
van Roermund
C W
CW
Schutgens
R B
RB
Barth
P G
PG
Heymans
H S
HS
van den Bosch
H
H
Tager
J M
JM
D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000145:classification / Q000175:diagnosis / Q000378:metabolism*; D008830:Microbodies / Q000378:metabolism*; D008928:Mitochondria / Q000378:metabolism; D010084:Oxidation-Reduction; D011247:Pregnancy; D011296:Prenatal Diagnosis
D005227:Fatty Acids