acidemia

(redirected from Methylmalonic acidemia)
Also found in: Dictionary, Thesaurus, Medical, Wikipedia.

acidemia

[‚as·ə′dēm·ē·ə]
(medicine)
A condition in which the pH of the blood falls below normal.
References in periodicals archive ?
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 (MMA).
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.
Methylmalonic acidemia (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.
Researchers have discovered that a hormone, fibroblast growth factor 21 (FGF21), is extremely elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia (MMA), a serious genomic disorder.