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Genetic and biochemical consequences of adenosine deaminase deficiency in humans.
[severe combined immunodeficiency]
Adenosine
deaminase
deficiency
accounts
for
approximately
15
-
20
%
of
severe
combined
immunodeficiency
in
humans
.
The
gene
for
adenosine
deaminase
is
located
on
chromosome
20
q
12
-
q
13
.
11
and
codes
for
an
aminohydrolase
that
catalyzes
the
deamination
of
adenosine
and
deoxyadenosine
to
inosine
and
deoxyinosine
,
respectively
.
Absence
of
the
enzyme
causes
a
build-up
of
the
substrates
in
addition
to
excess
deoxyadenosine
triphosphate
,
thereby
compromising
the
regenerative
capacity
of
the
immune
system
.
Due
to
underlying
allelic
heterogeneity
,
the
disorder
manifests
as
a
spectrum
,
ranging
from
neonatal
onset
severe
combined
immunodeficiency
to
apparently
normal
partial
adenosine
deaminase
deficiency
.
Tandem
mass
spectrometry
coupled
with
high
efficiency
separation
systems
enables
postnatal
diagnosis
of
the
disorder
,
while
prenatal
diagnosis
relies
on
assaying
enzyme
activity
in
cultured
amniotic
fibroblasts
or
chorionic
villi
sampling
.
Screening
of
adenosine
deaminase
deficiency
for
relatives-
at
-risk
may
reduce
costs
of
treatment
and
ensure
timely
medical
intervention
as
applicable
.
This
article
reviews
the
genetic
,
biochemical
and
clinical
aspects
of
adenosine
deaminase
deficiency
.
Diseases
Validation
Diseases presenting
"while prenatal diagnosis relies on assaying enzyme activity in cultured amniotic fibroblasts or chorionic villi sampling"
symptom
severe combined immunodeficiency
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