acidemia

(redirected from Methylmalonic acidemia)
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acidemia

[‚as·ə′dēm·ē·ə]
(medicine)
A condition in which the pH of the blood falls below normal.
References in periodicals archive ?
MRI characteristics of globus pallidus infarcts in isolated methylmalonic acidemia.
Unfortunately, the diagnosis of methylmalonic acidemia in her second child was not allowed as evidence in Stallings murder trial because the judge ruled that her defense attorney had been unable to come up with an expert witness who could testify that the genetic disease could be confused with finding ethylene glycol in the blood.
There was no increased methylmalonate, the diagnostic species of methylmalonic acidemia, in urine organic acids measured by GC-MS.
The natural history of the inherited methylmalonic acidemias.
He was initially diagnosed with methylmalonic acidemia, and a day later the diagnosis was revised to PA when the lab results were completed.
The hyperammonemia observed in methylmalonic acidemia is thought to arise because accumulated propionyl CoA interferes with formation of N-acetylglutamate, an obligatory activator of carbamyl phosphate synthase, the initial step in urea synthesis (4).
The identification of E-2-methylgutaconic acid, a new isoleucine metabolite, in the urine of patients with [beta]-ketothiolase deficiency, propionic acidemia and methylmalonic acidemia.
2-Ethylhydracrylic aciduria has also been reported in several defects at distal steps in the S-pathway, including [beta]-ketothiolase deficiency (15), 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (29), propionic acidemia (30), and methylmalonic acidemia attributable to deficiency of mutase or its cofactor vitamin [B.
Methylmalonic acidemia is now included in all tandem mass spectrometry (MS/MS)-based newborn screening programs (3-5).
An increase in C3 concentration may indicate the presence of either a propionic acidemia (PA), a methylmalonic acidemia (MMA), any of various cobalamin defects, or deficiency of vitamin Blz.
In most cases of methylmalonic acidemia, including those analyzed as part of the present study (see below), the methylmalonate concentrations in urine greatly exceed that of succinate, so that succinate interference will not generally lead to a false-positive result.
5) reported that propionylcarnitine (PrCRN) and carnitine (CRN) esters of 2-methyl-branched fatty acids with chain lengths of four to nine carbons were found in the urine of patients with propionic and methylmalonic acidemia.