Galactosemia: Difference between revisions

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__NOTOC__
__NOTOC__
{{Galactosemia}}
{{Galactosemia}}
{{CMG}}; {{AE}} {{DD}}
{{CMG}}; {{AE}} {{Sujaya}}


{{SK}} Classic galactosemia, galactokinase deficiency
{{SK}} Classic galactosemia, galactokinase deficiency
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==[[Galactosemia historical perspective|Historical Perspective]]==
==[[Galactosemia historical perspective|Historical Perspective]]==
__NOTOC__
{{Galactosemia}}
{{CMG}}; {{AE}}


==[[Galactosemia classification|Classification]]==
==[[Galactosemia classification|Classification]]==
__NOTOC__
{{Galactosemia}}
{{CMG}}; {{AE}}
==Overview==
[[Galactosemia]] consists of four types of [[disorders]] resulting from abnormal activity of the [[enzymes]] involved in [[galactose]] [[metabolism]]. Type I/ Classical is the most serious form of the [[disease]].
==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 <ref name="pmid33562227">{{cite journal| author=Banford S, McCorvie TJ, Pey AL, Timson DJ| title=Galactosemia: Towards Pharmacological Chaperones. | journal=J Pers Med | year= 2021 | volume= 11 | issue= 2 | pages=  | pmid=33562227 | doi=10.3390/jpm11020106 | pmc=7914515 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33562227  }} </ref>
===Type I/Classical===
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===
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===
Alterations in the [[gene]] coding for [[epimerase]] enzyme.<ref name="pmid16611573">{{cite journal| author=Timson DJ| title=The structural and molecular biology of type III galactosemia. | journal=IUBMB Life | year= 2006 | volume= 58 | issue= 2 | pages= 83-9 | pmid=16611573 | doi=10.1080/15216540600644846 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16611573  }} </ref> This is the mildest type.
===Type IV===
This type has only been discovered recently. Abnormal changes in the [[galactose mutatrose]] enzyme, encoded by the GALM [[gene]],  have been proven to cause the disorder. <ref name="pmid33181226">{{cite journal| author=Banford S, Timson DJ| title=The structural and molecular biology of type IV galactosemia. | journal=Biochimie | year= 2021 | volume= 183 | issue=  | pages= 13-17 | pmid=33181226 | doi=10.1016/j.biochi.2020.11.001 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33181226  }} </ref>
===


==[[Galactosemia pathophysiology|Pathophysiology]]==
==[[Galactosemia pathophysiology|Pathophysiology]]==
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==[[Galactosemia epidemiology and demographics|Epidemiology and Demographics]]==
==[[Galactosemia epidemiology and demographics|Epidemiology and Demographics]]==


==[[Galactosemia risk factors|Risk Factors]]==
==[[Galactosemia screening|Screening]]==


==[[Galactosemia screening|Screening]]==  
==[[Galactosemia Risk factors|Risk factors]]==


==[[Galactosemia natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
==[[Galactosemia natural history, complications and prognosis|Natural History, Complications and Prognosis]]==


==Diagnosis==
==[[Galactosemia diagnosis|Diagnosis]]==
[[Galactosemia history and symptoms|History and Symptoms]] | [[Galactosemia physical examination|Physical Examination]] | [[Galactosemia laboratory findings|Laboratory Findings]] | [[Galactosemia electrocardiogram|Electrocardiogram]] | [[Hashiomoto's thyroiditis chest x ray|Chest X Ray]] | [[Galactosemia CT|CT]] | [[Galactosemia MRI|MRI]] | [[Galactosemia echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Galactosemia other imaging findings|Other Imaging Findings]] | [[Galactosemia other diagnostic studies|Other Diagnostic Studies]]
 
[[Galactosemia history and symptoms|History and Symptoms]] | [[Galactosemia physical examination|Physical Examination]] | [[Galactosemia laboratory findings|Laboratory Findings]] |[[Galactosemia electrocardiography|Electrocardiography]]|[[Galactosemia chest xray| Chest XRay]]| [[Galactosemia ct scan|CT Scan]]| [[Galactosemia MRI|MRI]]|[[Galactosemia Echocardiography and Ultrasound|Echocardiography and Ultrasound]]| [[Galactosemia other imaging|Other Imaging]]| [[Galactosemia other diagnostic studies|Other Diagnostic Studies]]


==Treatment==
==[[Galactosemia treatment|Treatment]]==


[[Galactosemia medical therapy|Medical Therapy]] | [[Galactosemia surgery|Surgery]] | [[Galactosemia primary prevention|Primary Prevention]] | [[Galactosemia secondary prevention|Secondary Prevention]] | [[Galactosemia cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Galactosemia future or investigational therapies|Future or Investigational Therapies]]
[[Galactosemia medical therapy|Medical Therapy]] | [[Galactosemia surgery|Surgery]] | [[Galactosemia primary prevention|Primary Prevention]] | [[Galactosemia secondary prevention|Secondary Prevention]] | [[Galactosemia cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Galactosemia future or investigational therapies|Future or Investigational Therapies]]


==Case Studies==
==[[Galactosemia case studies|Case Studies]]==
[[Galactosemia case study one|Case #1]]
[[Galactosemia case study one|Case #1]]


Latest revision as of 15:04, 18 August 2022

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Overview

Historical Perspective

Classification

Pathophysiology

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Risk Factors

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Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

Chest X Ray

CT

MRI

Echocardiography or Ultrasound

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Surgery

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Case #1

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]

Synonyms and keywords: Classic galactosemia, galactokinase deficiency

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Galactosemia from other Diseases

Epidemiology and Demographics

Screening

Risk factors

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings |Electrocardiography| Chest XRay| CT Scan| MRI|Echocardiography and Ultrasound| Other Imaging| Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1

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