Isolated Methylmalonic Acidemia
. 2005 Aug 16 [Updated 2016 Jan 7].
Brunati et al., "Liver transplantation in severe methylmalonic acidemia
: the sooner, the better," Journal of Pediatrics, vol.
However, since increased propionylcarnitine may be observed in both propionic and methylmalonic acidemias
, further testing with organic acid analysis is necessary.
MRI characteristics of globus pallidus infarcts in isolated methylmalonic acidemia
. AJNR Am J Neuroradiol.
A wide range of genetic conditions was represented in the study population, such as metabolic disorders, proprionic acidemia, methylmalonic acidemia
, arginosiccinic acidemia; and Lesch-Nyhan syndrome, Schinzel-Giedion syndrome, tuberous sclerosis, Down syndrome, and fragile X syndrome.
She has methylmalonic acidemia
which is a protein deficiency and was first diagnosed when she was eight months old.
Instead of ethylene glycol poisoning, the child was found to suffer from a rare genetic disease, methylmalonic acidemia
However, upon the birth of a second baby, doctors found that the infant had a rare disease, methylmalonic acidemia
, which in fact, had caused the death of the first child.
Diagnosed with methylmalonic acidemia
(MMA), a severe metabolic disorder, the baby recovered when treated for a deficiency of camitine, the essential amino acid he was unable to metabolize because of a genetic disorder.
(MMA) (mRNA-3704): Three clinical trial sites are open and actively recruiting patients for the Phase 1/2 open-label, dose escalation study evaluating mRNA-3704 for the treatment of MMA.
mRNA-1944 is Moderna's first systemic secreted mRNA therapeutic and will validate mRNA-3704 for methylmalonic acidemia
, mRNA-3927 for propionic acidemi, mRNA-3283 for phenylketonuria, mRNA-3630 for Fabry's disease and several as yet undisclosed orphan disease programs, Tenthoff tells investors in a research note.