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Studies on the molecular defect in galactosemia.

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.

Authors

No affiliation info available

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 -