organic aciduria

(redirected from Ethylmalonic aciduria)

organic aciduria

(1) Organic acidaemia, see there.
(2) Lowe’s oculocerebrorenal syndrome.
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References in periodicals archive ?
Although the prevalent finding for SCAD deficiency is neurological abnormalities, such as hypotonia and seizures accompanying general developmental delay, the population of patients with ethylmalonic aciduria with a high frequency of the 625A variant allele in the homozygous form also showed diverse phenotypes, typically neuromuscular symptoms, and hypoglycaemia.
Ethylmalonic aciduria is associated with an amino acid variant of short-chain acyl-coenzyme A dehydrogenase.
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.
Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria.
Ethylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiency.
Both mutations contribute susceptibility to ethylmalonic aciduria but do not lead to clinically relevant SCAD deficiency (24).
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C [right arrow] or [vector] T, is present at an unexpectedly high frequency in the general population, as was the case for 625G [right arrow] or [vector] A, together conferring susceptibility to ethylmalonic aciduria.