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Related to Classic Galactosemia: Galactosaemia, Galt deficiency
  • noun

Words related to galactosemia

a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent

References in periodicals archive ?
One of the more common forms detected in newborn screening is DG, which is caused by the inheritance of 1 Duarte gene and 1 classic galactosemia gene.
Like patients with classic galactosemia, flies that are missing GALT survive if they are raised on food that does not contain galactose, but die in development if exposed to high levels of galactose.
This result is interesting for 2 reasons: (a) The same relationship was not reported in patients with classic galactosemia (10), and (b) these 3 metabolites reflect different metabolic pathways and metabolic fates.
Individuals who are compound heterozygotes for classic galactosemia and the Duarte variant have also been identified.
On the basis of these numbers, benign GALE deficiency should occur with a frequency comparable to that of classic galactosemia in our population mix.
Plasma samples from patients who abused alcohol (n = 12) or had classic galactosemia before dietary treatment (n = 1) showed a normal apoC-III isoform distribution (see Fig.