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[The diagnosis of peroxisomal disorders in Spain during the period 1987-1997].
[neonatal adrenoleukodystrophy]
Peroxisomal
disorders
are
divided
into
two
groups
:
a
)
Those
with
alterations
in
multiple
peroxisomal
functions
,
and
b
)
With
alterations
in
only
one
peroxisomal
function
.
During
the
period
1987
-
1997
,
using
very
long
chain
fatty
acids
,
plasmalogens
and
phytanic
acid
as
diagnostic
parameters
,
we
diagnosed
116
cases
of
peroxisomal
disorders
in
Spain
.
The
most
frequent
(
76
%
)
was
found
to
be
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
.
Of
the
five
phenotypes
described
in
this
condition
,
the
adult
cerebral
form
is
seen
in
a
higher
percentage
in
the
Spanish
population
(
14
%
)
than
in
other
populations
studied
(
1
-
3
%
)
.
Defects
in
the
assembly
of
peroxisomes
made
up
18
%
;
the
commonest
phenotype
was
that
of
Zellweger
's
syndrome
(
13
cases
)
,
followed
by
neonatal
adrenoleukodystrophy
(
5
cases
)
and
infantile
Refsum
(
2
cases
)
.
In
the
latter
two
patients
,
study
of
the
hepatic
peroxisomes
showed
a
mosaic
distribution
.
Rhizomelic
punctate
chondroplasia
made
up
3
%
,
isolated
beta
-oxidation
defects
2
%
and
defects
of
plasmalogen
synthesis
1
%
.
In
X-
ALD
,
diagnosis
of
an
initial
case
led
to
the
detection
of
12
presymptomatic
and
70
heterozygote
persons
.
Prenatal
diagnoses
were
made
on
10
occasions
and
7
fetuses
found
to
be
affected
.
The
introduction
of
the
study
of
ALDP
expression
in
the
fibroblasts
and
the
profile
of
the
organic
acids
in
the
urine
has
led
to
improved
diagnosis
of
these
disorders
.
