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Post- and prenatal diagnostic methods for the homocystinurias.
[homocystinuria without methylmalonic aciduria]
Diagnosis
of
the
homozygous
homocystinurias
can
be
performed
by
investigations
at
the
metabolite
,
enzyme
and
DNA
level
.
The
existence
of
variant
forms
due
to
the
wide
range
of
genetic
variation
may
result
in
only
small
differences
in
various
parameters
between
controls
and
affected
subjects
.
1
.
Sulphur
amino
acid
concentrations
in
plasma
,
especially
total
homocysteine
,
are
useful
in
first
line
diagnostic
investigations
.
2
.
Cystathionine-
beta
-synthase
(
CBS
)
,
methylenetetrahydrofolate
reductase
(
MTHFR
)
and
methylfolate
homocysteine
methyltransferase
(
MFMT
)
can
be
directly
assayed
in
many
tissues
including
fibroblasts
(
each
)
and
blood
cells
(
except
CBS
)
.
Indirect
whole
cell
assays
which
measure
pathway
activity
dependent
on
a
particular
enzyme
can
provide
useful
diagnostic
information
.
3
.
Direct
analysis
of
mutations
is
available
for
CBS
,
MTHFR
and
recently
also
for
MFMT
deficiencies
.
However
the
existence
of
a
larger
number
of
very
rare
,
often
private
,
mutations
limits
the
usefulness
of
this
approach
in
routine
diagnosis
.
The
above
diagnostic
approaches
can
generally
be
applied
to
prenatal
diagnosis
.
Measurement
of
methylmalonic
acid
and
other
metabolites
in
amniotic
fluid
by
stable
isotope
dilution
/
gas
chromatography-mass
spectrometry
is
well
established
for
the
methylmalonic
acidurias
.
This
method
has
also
been
applied
to
combined
homocystinuria
/
methylmalonic
aciduria
supported
by
enzyme
assays
in
cultured
cells
.
Total
homocysteine
measurement
in
cell
free
amniotic
fluid
is
also
possible
,
performed
so
far
in
14
cases
with
two
affected
fetuses
.
The
indirect
assay
of
methionine
formation
from
[
14
C
]
labelled
formate
in
intact
cultured
amniotic
fluid
cells
has
been
for
prenatal
diagnosis
of
the
remethylation
defects
.
Diseases
Validation
Diseases presenting
"wide range"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
carcinoma of the gallbladder
congenital toxoplasmosis
cowden syndrome
cystinuria
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
fabry disease
gm1 gangliosidosis
harlequin ichthyosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
legionellosis
neonatal adrenoleukodystrophy
oral submucous fibrosis
pendred syndrome
phenylketonuria
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
trochlear dysplasia
well-differentiated liposarcoma
werner syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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