Galactosemia: Difference between revisions
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[[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>: | [[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 [[Galactose-1-phosphate uridyl transferase]] [[enzyme]] of the [[Leloir pathway]] in the [[red blood cells]]. | Severe deficiency or absence of the [[Galactose-1-phosphate uridyl transferase]] [[enzyme]] of the [[Leloir pathway]] in the [[red blood cells]].<ref name="pmid28281081">{{cite journal| author=Coelho AI, Rubio-Gozalbo ME, Vicente JB, Rivera I| title=Sweet and sour: an update on classic galactosemia. | journal=J Inherit Metab Dis | year= 2017 | volume= 40 | issue= 3 | pages= 325-342 | pmid=28281081 | doi=10.1007/s10545-017-0029-3 | pmc=5391384 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28281081 }} </ref> | ||
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==[[Galactosemia pathophysiology|Pathophysiology]]== | ==[[Galactosemia pathophysiology|Pathophysiology]]== | ||
Revision as of 06:25, 10 May 2022
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Galactosemia Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Galactosemia On the Web |
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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
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Galactosemia Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Galactosemia On the Web |
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American Roentgen Ray Society Images of Galactosemia |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [3]; Associate Editor(s)-in-Chief:
Classification
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Galactosemia Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Galactosemia On the Web |
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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.[2]
=
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.
- ↑ Coelho AI, Rubio-Gozalbo ME, Vicente JB, Rivera I (2017). "Sweet and sour: an update on classic galactosemia". J Inherit Metab Dis. 40 (3): 325–342. doi:10.1007/s10545-017-0029-3. PMC 5391384. PMID 28281081.