organic acidemia


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Related to organic acidemia: aciduria

organic acidemia

A clinical presentation of a metabolic disorder, often first seen in infants who present with poor feeding, vomiting, tachypnea, acidosis, hyperammonemia, ketosis, ketonuria, irritability, and convulsions or hypotonia and lethargy, findings that are otherwise suggestive of neonatal sepsis Diseases with OA Isovaleric and propionic acidemias, maple syrup urine disease, medium chain acyl dehydrogenase deficiency, glutaric, methylmalonic, formiminoglutamic acidurias.
References in periodicals archive ?
Diagnosis of organic acidemias by gas chromatography-mass spectrometry.
Electrospray tandem mass spectrometry in the analysis of organic acidemias.
Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitines.
Organic acidemia disorders are highly manageable with diet and medication.
Kathy Stagni can be contacted at: Organic Acidemia Association Web site: http://www.
Moreover, the technique has been successfully applied to prenatal diagnosis of several organic acidemias from amniotic fluid and to postmortem diagnosis from bile spots [35, 36].
The parameters to be used by the algorithm were selected by comparing the metabolic profiles from several known cases of organic acidemias and amino acid disorders with the profiles from the control samples.
The introduction of ESI-MS/MS as a diagnostic tool in our metabolic unit has had a great impact on the number of cases diagnosed as organic acidemias or aminoacidopathies from referred sick children [32-34].
The situation is not as simple for organic acidemias and fatty acids oxidation defects.
The group of organic acidemias including methlymalonic, propionic and isovaleric acidemias are among the important causes for wide anion gap metabolic acidosis.