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Creatine metabolism in combined methylmalonic aciduria and homocystinuria.
[homocystinuria without methylmalonic aciduria]
Methylation
is
an
important
aspect
of
many
fundamental
biological
processes
including
creatine
biosynthesis
.
We
studied
five
patients
with
an
inborn
error
of
cobalamin
metabolism
to
characterize
the
relation
between
homocysteine
and
creatine
metabolism
.
Plasma
guanidinoacetate
concentrations
were
increased
,
14
.
9
+
/
-
4
.
8
micromol
/
L
(
p
<
0
.
0001
)
,
whereas
plasma
creatine
concentrations
were
in
the
low
reference
range
,
43
.
8
+
/
-
20
.
7
micromol
/
L
(
p
=
not
significant
)
.
Individuals
with
combined
methylmalonic
aciduria
and
homocystinuria
have
a
functional
impairment
of
the
creatine
synthetic
pathway
probably
secondary
to
a
relative
depletion
of
labile
methyl
groups
.
The
neurotoxic
effects
of
guanidinoacetate
may
be
partly
responsible
for
the
observed
neurological
phenotype
.