Abstract
Galactose in serum and galactose-1-phosphate in erythrocytes were measured in six transferase deficient children to determine if these metabolites could be used in detecting transferase deficient galactosemia. In all six children the galactose levels were normal and the galactose-1-phosphate elevated. The galactose level depends on diet and the rate of metabolism to galactose-1-phosphate and, therefore, should not be used to predict transferase deficient galactosemia. The galactose-1-phosphate level was elevated in all the transferase deficient children because once formed it cannot be metabolized. Measurement of galactose-1-phosphate is difficult and is usually requested to determine whether or not the child is following the galactose restricted diet. In transferase deficient galactosemia, the enzyme hexose-1-phosphate uridylyltransferase is absent. The diagnosis should be determined by measurement of the activity of the enzyme hexose-1-phosphate uridylyltransferase in erythrocytes. In galactokinase deficient galactosemia, the enzyme galactokinase is absent. Galactose levels are elevated but the amount present depends on diet and how soon the blood was collected after the ingestion of galactose containing foods. The diagnosis of galactokinase deficient galactosemia is based on the measurement of the enzyme galactokinase in erythrocytes.
TY - JOUR
T1 - Problems in the diagnosis of transferase and galactokinase deficient galactosemia.
AU - Pesce,M A,
AU - Bodourian,S H,
PY - 1980/1/1/pubmed
PY - 1980/1/1/medline
PY - 1980/1/1/entrez
SP - 26
EP - 32
JF - Annals of clinical and laboratory science
JO - Ann Clin Lab Sci
VL - 10
IS - 1
N2 - Galactose in serum and galactose-1-phosphate in erythrocytes were measured in six transferase deficient children to determine if these metabolites could be used in detecting transferase deficient galactosemia. In all six children the galactose levels were normal and the galactose-1-phosphate elevated. The galactose level depends on diet and the rate of metabolism to galactose-1-phosphate and, therefore, should not be used to predict transferase deficient galactosemia. The galactose-1-phosphate level was elevated in all the transferase deficient children because once formed it cannot be metabolized. Measurement of galactose-1-phosphate is difficult and is usually requested to determine whether or not the child is following the galactose restricted diet. In transferase deficient galactosemia, the enzyme hexose-1-phosphate uridylyltransferase is absent. The diagnosis should be determined by measurement of the activity of the enzyme hexose-1-phosphate uridylyltransferase in erythrocytes. In galactokinase deficient galactosemia, the enzyme galactokinase is absent. Galactose levels are elevated but the amount present depends on diet and how soon the blood was collected after the ingestion of galactose containing foods. The diagnosis of galactokinase deficient galactosemia is based on the measurement of the enzyme galactokinase in erythrocytes.
SN - 0091-7370
UR - https://www.unboundmedicine.com/medline/citation/7362195/Problems_in_the_diagnosis_of_transferase_and_galactokinase_deficient_galactosemia_
L2 - http://www.diseaseinfosearch.org/result/2973
DB - PRIME
DP - Unbound Medicine
ER -