organic aciduria

(redirected from Ethylmalonic aciduria)

organic aciduria

(1) Organic acidaemia, see there.
(2) Lowe’s oculocerebrorenal syndrome.
References in periodicals archive ?
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).