Galactosemia: Difference between revisions
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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>. This is the most severe and potentially lethal type. | 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>. This is the most severe and potentially lethal type. | ||
===Type II=== | ===Type II=== | ||
Mutations in the [[gene]] encoding for the enzyme [[galactokinase]] | Mutations in the [[gene]] encoding for the enzyme [[galactokinase]]<ref name="pmid15526155">{{cite journal| author=Holden HM, Thoden JB, Timson DJ, Reece RJ| title=Galactokinase: structure, function and role in type II galactosemia. | journal=Cell Mol Life Sci | year= 2004 | volume= 61 | issue= 19-20 | pages= 2471-84 | pmid=15526155 | doi=10.1007/s00018-004-4160-6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15526155 }} </ref> | ||
===Type III=== | ===Type III=== | ||
Revision as of 06:44, 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]
Type I/Classical
Severe deficiency or absence of the Galactose-1-phosphate uridyl transferase enzyme of the Leloir pathway in the red blood cells.[2]. This is the most severe and potentially lethal type.
Type II
Mutations in the gene encoding for the enzyme galactokinase[3]
Type III
Alterations in the gene coding for epimerase enzyme. This is the mildest type.
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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
- ↑ Banford S, McCorvie TJ, Pey AL, Timson DJ (2021). "Galactosemia: Towards Pharmacological Chaperones". J Pers Med. 11 (2). doi:10.3390/jpm11020106. PMC 7914515 Check
|pmc=value (help). PMID 33562227 Check|pmid=value (help). - ↑ 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.
- ↑ Holden HM, Thoden JB, Timson DJ, Reece RJ (2004). "Galactokinase: structure, function and role in type II galactosemia". Cell Mol Life Sci. 61 (19–20): 2471–84. doi:10.1007/s00018-004-4160-6. PMID 15526155.