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 ?
The subject of numerous articles and reviews, this application remains the keystone for clinical diagnosis of organic acidemias (21-24).
The short-chain acylcarnitine C3 is an extremely important diagnostic marker for certain organic acidemias.
However, other disorders, such as the tyrosinemias and certain organic acidemias such as MMA and cobalamin disorders, have a substantially higher false-positive rate (~0.
Organic acidemia disorders are highly manageable with diet and medication.
Kathy Stagni can be contacted at: Organic Acidemia Association Web site: http://www.
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].
7) Gas chromatography-mass spectrometry (GC-MS) remains the assay of choice for the evaluation of known organic acidemias, as well as the discovery of new ones.