Peroxisomal disorders. Neurodevelopmental and biochemical aspects
F. R. Brown 3rd, R. Voigt, A. K. Singh and I. Singh
Meyer Center for Developmental Pediatrics, Texas Children's Hospital, Houston 77030.
The peroxisomal disorders represent a group of inherited metabolic
disorders that derive from defects of peroxisomal biogenesis and/or from
dysfunction of single or multiple peroxisomal enzymes. Because peroxisomes
are involved in the metabolism of lipids critical to the functioning of the
nervous system, many of the peroxisomal disorders manifest with significant
degrees of progressive psychomotor dysfunction. These disorders should be
considered in the differential diagnosis of the infant with hypotonia and
psychomotor delay (especially if accompanied by facial dysmorphisms,
hepatomegaly, cataracts and/or retinitis, calcific stippling, short limbs,
or combinations of these features), in the school-aged child with
progressive neurologic dysfunction, and in adults with slowly progressive
motor dysfunction. Current knowledge of peroxisomal biochemical and
enzymatic processes permits precise identification of particular disorders
within the peroxisomal disorder grouping. An effort should be made to
identify the specific peroxisomal disorder to provide a precise explanation
for neurodevelopmental deficits, to potentially prevent recurrence through
genetic counseling, and to provide appropriate therapies when available.
