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Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.
[neonatal adrenoleukodystrophy]
To
use
the
technique
of
complementation
analysis
to
help
define
genotype
and
classify
patients
with
clinical
manifestations
consistent
with
those
of
the
disorders
of
peroxisome
assembly
,
namely
the
Zellweger
syndrome
(
ZS
)
,
neonatal
adrenoleukodystrophy
(
NALD
)
,
infantile
Refsum
disease
(
IRD
)
,
and
rhizomelic
chondrodysplasia
punctata
(
RCDP
)
.
Clinical
findings
,
peroxisomal
function
,
and
complementation
groups
were
examined
in
173
patients
with
the
clinical
manifestations
of
these
disorders
.
In
37
patients
(
21
%
)
,
peroxisome
assembly
was
intact
and
isolated
deficiencies
of
one
of
five
peroxisomal
enzymes
involved
in
the
beta
-oxidation
of
fatty
acids
or
plasmalogen
biosynthesis
were
demonstrated
.
Ten
complementation
groups
were
identified
among
93
patients
(
54
%
)
with
impaired
peroxisome
assembly
and
one
of
three
phenotypes
(
ZS
,
NALD
,
or
IRD
)
without
correlation
between
complementation
group
and
phenotype
.
Forty
-
three
patients
(
25
%
)
had
impaired
peroxisome
assembly
associated
with
the
RCDP
phenotype
and
belonged
to
a
single
complementation
group
.
Of
the
173
patients
,
10
had
unusually
mild
clinical
manifestations
,
including
survival
to
the
fifth
decade
or
deficits
limited
to
congenital
cataracts
.
At
least
16
complementation
groups
,
and
hence
genotypes
,
are
associated
with
clinical
manifestations
of
disorders
of
peroxisome
assembly
.
The
range
of
phenotype
is
wide
,
and
some
patients
have
mild
involvement
.
Diseases
Validation
Diseases presenting
"are associated with clinical manifestations of disorders of peroxisome assembly"
symptom
neonatal adrenoleukodystrophy
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