-
Combined malonic and
methylmalonic aciduria (
CMAMMA), also
called combined malonic and
methylmalonic acidemia is an
inherited metabolic disease characterized...
- In the
metabolic disease combined malonic and
methylmalonic aciduria (
CMAMMA) due to ACSF3 deficiency,
mitochondrial fatty acid
synthesis (mtFASII),...
- In the
metabolic disease combined malonic and
methylmalonic aciduria (
CMAMMA) due to ACSF3 deficiency,
there is an
altered composition of
complex lipids...
- have been
shown to
cause combined malonic and
methylmalonic aciduria (
CMAMMA).
CMAMMA is a
condition characterized by high
levels of
malonic acid and methylmalonic...
- In the
metabolic disease combined malonic and
methylmalonic aciduria (
CMAMMA), acyl-CoA
synthetase family member 3 (ACSF3) is reduced,
which converts...
- a
protein required for
normal functioning of methylmalonyl-CoA mutase.
CMAMMA is
probably the most
common form of
methylmalonic acidemia, but is rarely...
-
clearly distinguished from
combined malonic and
methylmalonic aciduria (
CMAMMA) and
classic methylmalonic acidemia. The
latter applies for both, vitamin...
-
disorders combined malonic and
methylmalonic aciduria (
CMAMMA) and
malonic aciduria. In
CMAMMA, malonyl-CoA synthetase, ACSF3 is impaired,
which generates...
- and
methylmalonic aciduria (
CMAMMA). By
calculating the
malonic acid to
methylmalonic acid
ratio in
blood plasma,
CMAMMA can be
distinguished from classic...
- and
methylmalonic aciduria (
CMAMMA). By
calculating the
malonic acid to
methylmalonic acid
ratio in
blood plasma,
CMAMMA can be
distinguished from classic...
