galactosemia

(redirected from galactosemic)
Also found in: Dictionary, Medical, Encyclopedia.
Related to galactosemic: Galactosaemia
Graphic Thesaurus  🔍
Display ON
Animation ON
Legend
Synonym
Antonym
Related
  • 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 ?
The galactosemic children differed from one another in enzyme activity and [sup.13]C[O.sub.2] enrichment at 120 min.
Accumulation of galactose-1-phosphate in the galactosemic fetus despite maternal milk avoidance.
Both galactose and glucose belong to AR substrates, but AR has higher affinity to galactose than to glucose, and galactitol is even more difficult to be further metabolized than sorbitol, so galactosemic cataract formed more rapidly than diabetic cataract model [3, 7, 8].
1) and can be found in plasma, RBCs, and urine of both galactosemic and unaffected individuals (7-9).
The best solution is to detect galactosemic babies immediately after birth.
Induction of Rat Galactosemic Cataract and Administration of Diosgenin [13].
Thus, reliable measurement of GALT activity in this range is highly desirable and could be critical in the study and delineation of biochemical phenotypes in galactosemic patients, as more than 230 galactose-1-phosphate uridyltransferase (GALT) gene mutations have been identified (2, 16, 17).
"One third to one half of the families that have a galactosemic child eventually diagnosed have already had one infant die with a disease that, in retrospect, at autopsy or clinically, looked like galactosemia," said Dr.
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.
Montreal, QUE CAN H1P 1H8 (514) 321-8684 (514) 321-9257 (fax) http://www.cam.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).
Montreal, Quebec CAN H1P 1 H8 (514) 321-8684 (514) 321-9257 (fax) http://www.cam.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.