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Related to Classical galactosemia: Galactosaemia, Galactosemia type 3, Galactosemia type 1
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  • noun

Words related to galactosemia

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

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Patients in this group were presumed to possess classical galactosemia per the requirement for enrollment.
We used the LC-MS/MS-based assay to analyze GALT activity in erythrocytes from 34 samples collected on 1 single day from patients with presumed classical galactosemia as described above.
However, when the samples from 6 patients with classical galactosemia were analyzed, the LC-MS/MS showed no detectable activity, whereas the fluorescent assay showed nonzero, either positive or negative, values due to the inadequate detection capability of the fluorescent assay.
Postabsorptive patients with classical galactosemia (n = 10), however, exhibited ~10-fold increased (P [much less than] 0.
Our present data indicate that, under postabsorptive conditions, the ratios of excess n-glucose over n-galactose in the plasma of healthy adults, diabetic patients, and patients with classical galactosemia are 30,000-60,000:1, 50,000-200,000:1, and 2000-10,000:1, respectively.
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