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GALACTOSEMIA

GALACTOSEMIA CHRONIC galactosemia, or galactose diabetes, is a disorder of carbohydrate metabolism in which there seems to be an inability of the liver to convert galactose into glycogen satisfactorily. The metabolic error may be a decreased conversion of galactose into glucose, most likely an enzymatic want or defect.1 This disease, one of the so-called inborn errors of metabolism, though rare, is being reported more frequently in the current pediatric literature. Bell and co-workers2 in 1950 reviewed 15 cases reported in the literature prior to their study of 2 cases, and in the ensuing two years an almost equal number of cases have come to light. The purpose of this paper, in addition to adding three more cases (all in one family), is to illustrate and emphasize that icterus may be a primary and not a secondary feature of the disease and to reemphasize the importance of early diagnosis, since http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American journal of diseases of children American Medical Association

GALACTOSEMIA

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References (8)

Publisher
American Medical Association
Copyright
Copyright © 1953 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
ISSN
0096-8994
eISSN
1538-3628
DOI
10.1001/archpedi.1953.02050070590007
Publisher site
See Article on Publisher Site

Abstract

CHRONIC galactosemia, or galactose diabetes, is a disorder of carbohydrate metabolism in which there seems to be an inability of the liver to convert galactose into glycogen satisfactorily. The metabolic error may be a decreased conversion of galactose into glucose, most likely an enzymatic want or defect.1 This disease, one of the so-called inborn errors of metabolism, though rare, is being reported more frequently in the current pediatric literature. Bell and co-workers2 in 1950 reviewed 15 cases reported in the literature prior to their study of 2 cases, and in the ensuing two years an almost equal number of cases have come to light. The purpose of this paper, in addition to adding three more cases (all in one family), is to illustrate and emphasize that icterus may be a primary and not a secondary feature of the disease and to reemphasize the importance of early diagnosis, since

Journal

American journal of diseases of children – American Medical Association

Published: May 1, 1953

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