Galactosemia: Difference between revisions
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==Types== | ==Types== | ||
[[Galactosemia]] refers to a group of [[autosomal recessive]] disorders of [[galactose]] [[metabolism]]. They are classified into the following types based on the enzymatic activity: | [[Galactosemia]] refers to a group of [[autosomal recessive]] disorders of [[galactose]] [[metabolism]]. They are classified into the following types based on the enzymatic activity <ref name="pmid22483615">{{cite journal| author=Berry GT| title=Galactosemia: when is it a newborn screening emergency? | journal=Mol Genet Metab | year= 2012 | volume= 106 | issue= 1 | pages= 7-11 | pmid=22483615 | doi=10.1016/j.ymgme.2012.03.007 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22483615 }} </ref>: | ||
===Classical=== | ===Classical=== | ||
Severe deficiency or absence of the | Severe deficiency or absence of the [[Galactose-1-phosphate uridyl transferase]] [[enzyme]] of the [[Leloir pathway]] in the [[red blood cells]]. | ||
==[[Galactosemia pathophysiology|Pathophysiology]]== | ==[[Galactosemia pathophysiology|Pathophysiology]]== |
Revision as of 06:18, 10 May 2022
Galactosemia Microchapters |
Diagnosis |
---|
Treatment |
Case Studies |
Galactosemia On the Web |
American Roentgen Ray Society Images of Galactosemia |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Dayana Davidis, M.D. [2]
Synonyms and keywords: Classic galactosemia, galactokinase deficiency
Overview
Historical Perspective
Galactosemia Microchapters |
Diagnosis |
---|
Treatment |
Case Studies |
Galactosemia On the Web |
American Roentgen Ray Society Images of Galactosemia |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [3]; Associate Editor(s)-in-Chief:
Classification
Galactosemia Microchapters |
Diagnosis |
---|
Treatment |
Case Studies |
Galactosemia On the Web |
American Roentgen Ray Society Images of Galactosemia |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [4]; Associate Editor(s)-in-Chief:
Overview
Types
Galactosemia refers to a group of autosomal recessive disorders of galactose metabolism. They are classified into the following types based on the enzymatic activity [1]:
Classical
Severe deficiency or absence of the Galactose-1-phosphate uridyl transferase enzyme of the Leloir pathway in the red blood cells.
Pathophysiology
Causes
Differentiating Galactosemia from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | Chest X Ray | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies
Treatment
Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies
Case Studies
- ↑ Berry GT (2012). "Galactosemia: when is it a newborn screening emergency?". Mol Genet Metab. 106 (1): 7–11. doi:10.1016/j.ymgme.2012.03.007. PMID 22483615.