Studies on the molecular defect in galactosemia.UCLA Forum Med Sci. 1975UF
Abstract
The galactose metabolic pathway and some of the consequences of deficient galactokinase or gal-1-P uridyltransferase activity have been discussed. The existence of CRM in transferase deficiency galactosemia is presented as evidence that this disease is the result of a structural gene mutation. The finding of both quantitative and qualitative variation in transferase CRM among different galactosemic patients argues that genetic heterogeneity exists within this group. Data supporting a Ping-Pong mechanism of action for human transferase reaction is proposed.
MeSH
Pub Type(s)
Comparative Study
Journal Article
Research Support, U.S. Gov't, P.H.S.
Language
eng
PubMed ID
173062
Citation
Tedesco, T A.. "Studies On the Molecular Defect in Galactosemia." UCLA Forum in Medical Sciences, 1975, pp. 467-77.
Tedesco TA. Studies on the molecular defect in galactosemia. UCLA Forum Med Sci. 1975.
Tedesco, T. A. (1975). Studies on the molecular defect in galactosemia. UCLA Forum in Medical Sciences, (18), 467-77.
Tedesco TA. Studies On the Molecular Defect in Galactosemia. UCLA Forum Med Sci. 1975;(18)467-77. PubMed PMID: 173062.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - Studies on the molecular defect in galactosemia.
A1 - Tedesco,T A,
PY - 1975/1/1/pubmed
PY - 1975/1/1/medline
PY - 1975/1/1/entrez
SP - 467
EP - 77
JF - UCLA forum in medical sciences
JO - UCLA Forum Med Sci
IS - 18
N2 - The galactose metabolic pathway and some of the consequences of deficient galactokinase or gal-1-P uridyltransferase activity have been discussed. The existence of CRM in transferase deficiency galactosemia is presented as evidence that this disease is the result of a structural gene mutation. The finding of both quantitative and qualitative variation in transferase CRM among different galactosemic patients argues that genetic heterogeneity exists within this group. Data supporting a Ping-Pong mechanism of action for human transferase reaction is proposed.
SN - 0082-7134
UR - https://www.unboundmedicine.com/medline/citation/173062/Studies_on_the_molecular_defect_in_galactosemia_
L2 - http://www.diseaseinfosearch.org/result/2973
DB - PRIME
DP - Unbound Medicine
ER -