acidemia

(redirected from Methylmalonic acidemia)
Also found in: Dictionary, Medical, Encyclopedia, Wikipedia.
Graphic Thesaurus  🔍
Display ON
Animation ON
Legend
Synonym
Antonym
Related
  • noun

Words related to acidemia

a blood disorder characterized by an increased concentration of hydrogen ions in the blood (which falls below 7 on the pH scale)

References in periodicals archive ?
Cambridge, Massachusetts-based messenger RNA therapeutics (mRNA) and vaccines developer Moderna Therapeutics has published preclinical data supporting its first rare liver disease development program, an mRNA therapeutic for methylmalonic acidemia (MMA), the company said.
However, since increased propionylcarnitine may be observed in both propionic and methylmalonic acidemias, further testing with organic acid analysis is necessary.
Methylmalonic acidemia (MMA) is one member of a heterogeneous group of autosomal recessive inborn errors of metabolism known as organic acidemias/acidurias.
Elnaz Zein Ali, an Iranian whose 13-year-old daughter suffers from Methylmalonic Acidemia (MMA) said dealing with the disease has been extremely difficult for his family.
Non-ketotic hyperglycemia, propionic aciduria, methylmalonic acidemia, D-glyceric acidemia, sulfite and xanthine oxidase deficiency, Menkes disease and Zellweger syndrome are the main metabolic disorders which are known to cause this disease.
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.
A double-transplant surgery on the youngest child to ever receive a new kidney and liver as treatment for methylmalonic acidemia, a deadly metabolic disorder
A broad variety of defects in vitamin B12 processing, known as cobalaminopathies, can lead to disorders with a biochemical overlap with methylmalonic acidemia.
Nine-year-old Vincent Sanchez and mom Lori of Denver, CO are all smiles this week during his recovery from a combined kidney-liver transplant to treat methylmalonic acidemia, MMA, a rare and deadly metabolic disorder.
Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inborn errors of amino acid metabolism affecting 1 in 50 000 to 1 in 100 000 individuals (6,7).