Revision as of 14:09, 10 May 2022

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

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [3]; Associate Editor(s)-in-Chief:

Classification

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [4]; Associate Editor(s)-in-Chief:

=

	Galactosemia Microchapters
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Overview
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Classification
Pathophysiology
Causes
Differentiating Galactosemia from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms
Physical Examination
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Case #1
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Galactosemia in the news
Blogs on Galactosemia
Directions to Hospitals Treating Galactosemia
Risk calculators and risk factors for Galactosemia

	Galactosemia Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
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
Case #1
Galactosemia On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Galactosemia All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Galactosemia
CDC on Galactosemia
Galactosemia in the news
Blogs on Galactosemia
Directions to Hospitals Treating Galactosemia
Risk calculators and risk factors for Galactosemia

	Galactosemia Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
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
Case #1
Galactosemia On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Galactosemia All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Galactosemia
CDC on Galactosemia
Galactosemia in the news
Blogs on Galactosemia
Directions to Hospitals Treating Galactosemia
Risk calculators and risk factors for Galactosemia

Pathophysiology

Causes

Differentiating Galactosemia from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Treatment

Case Studies

Case #1

Template:Metabolic pathology

Template:WikiDoc Sources

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 {{Galactosemia}}
 {{CMG}}; {{AE}}
-==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: Difference between revisions