galactosemia

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Related to galactosemic: Galactosaemia
  • 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 ?
This individual proved to be a variant Duarte galactosemic compound heterozygote, and was revealed later by DNA sequencing of the entire GALT gene to have a Q188R/ N314D genotype.
Our findings suggest that galactose 1-phosphate inhibits [beta]-1,4-galactosyltransferase but not [beta]-1,3-galactosyltransferase in galactosemic patients.
Nine specimens were analyzed from individuals suspected of being galactosemic either as a result of neonatal screening or were known to have reduced red cell GALT activity in the range of carriers or of compound heterozygotes for N314D/Q188R mutations.
org/~acaf 1,2,8,9; French materials FUCOSIDOSIS See: Tay-Sachs Disease FULLER-ALBRIGHT SYNDROME See: McCune-Albright Syndrome FULMINATING HYPERPYREXIA See: Malignant Hyperthermia GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE DEFICIENCY See: Galactosemia GALACTOSEMIA See also: Metabolic Disorders, Liver Disease Parents of Galactosemic Children Inc.
1), and gave the highest signal intensity in samples containing excess gal-1-P (gal-l-P-enriched samples and galactosemic samples).
org/~acaf 1,2,8,9; French materials FUCOSIDOSIS See: Tay-Sachs Disease FULLER-ALBRIGHT SYNDROME See: McCune-Albright Syndrome FULMINATING HYPERPYREXIA See: Malignant Hyperthermia G SYNDROME See: Opitz Syndrome GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE DEFICIENCY See: Galactosemia GALACTOSEMIA See also: Metabolic Disorders, Liver Disease Parents of Galactosemic Children Inc.
In galactosemic infants on an unrestricted lactose intake, a potentially lethal organ toxicity syndrome develops, presumably because D-galactose-derived metabolites (D-galactose-l-phosphate and D-galactitol) accumulate within the cells.
PQ CAN H1P 1H8 514) 321-8684 (514) 321-9257 (fax) 1,2,8,9; French materials FUCOSIDOSIS See: Tay-Sachs Disease FULLER-ALBRIGHT SYNDROME See: McCune-Albright Syndrome FULMINATING HYPERPYREXIA See: Malignant Hyperthermia G SYNDROME See: Opitz Syndrome GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE DEFICIENCY See: Galactosemia GALACTOSEMIA See also: Metabolic Disorders, Liver Disease Parents of Galactosemic Children Inc.
Parents of Galactosemic Children 2871 Stagecoach Dr Valley Springs, CA 95252 (209) 772-2449 (voice/fax) 1,4,5,6,9,10
Parents of Galactosemic Children 20981 Solano Way Boca Raton, FL 33433 (407) 852-0266