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


{{SK}} Classic galactosemia, galactokinase deficiency
{{SK}} Classic galactosemia, galactokinase deficiency


==[[Galactosemia overview|Overview]]==
==[[Galactosemia overview|Overview]]==
==[[Galactosemia historical perspective|Historical Perspective]]==
==[[Galactosemia historical perspective|Historical Perspective]]==
Von Ruess in a 1908 publication entitled Sugar Excretion In Infancy reported on a breast fed infant with hepatomegaly and spleen enlargement, failure to thrive and galactosuria.
Goppert first described the disease in 1917, with its cause as a defect in galactose metabolism being identified by a group led by Herman Kalckar in 1956<ref name="pmid13311516">{{cite journal| author=ISSELBACHER KJ, ANDERSON EP, KURAHASHI K, KALCKAR HM| title=Congenital galactosemia, a single enzymatic block in galactose metabolism. | journal=Science | year= 1956 | volume= 123 | issue= 3198 | pages= 635-6 | pmid=13311516 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13311516  }} </ref>


==[[Galactosemia classification|Classification]]==
==[[Galactosemia classification|Classification]]==


Galactosemia is an inherited rare autosomal recessive trait that leads to the build up of galactose in the blood. The word galactosemia means too much galactose, which is a simple sugar obtained after lactose, the sugar found in dairy products, is broken down by enzymes found in the body into galactose and glucose.
==[[Galactosemia pathophysiology|Pathophysiology]]==


Galactose is converted into glucose by the action of three enzymes, known as the Leloir pathway. Accordingly, there are 3 known types of Galactosemia; type 1, 2 and 3:
==[[Galactosemia causes|Causes]]==
   


'''Types Of Galactosemia'''
==[[Differentiating Galactosemia from other diseases|Differentiating Galactosemia from other Diseases]]==


Galactosemia Type 1
==[[Galactosemia epidemiology and demographics|Epidemiology and Demographics]]==


Galactosemia type 1, also called classic galactosemia is the most common form of the disorder and the first form to be discovered. Individuals diagnosed with classic galactosemia have the genetic makeup G/G, which indicates that they have inherited the galactosemia gene from each parent. They have defects in both copies of the gene that codes for the enzyme galactose-1-phosphate uridyl transferase or GALT. Duarte galactosemia is a variant of the classic galactosemia. Individuals with the genetic makeup D/G have one gene for classic galactosemia from one parent, G, and one Duarte gene variant from the other parent. Individuals with Duarte galactosemia will be able to metabolise some galactose as GALT activity in Duarte Galactosemia patients is approximately 20% to 50 %. Patients with Duarte Galactosemia have less severe symptoms than other forms of the disorder.
==[[Galactosemia screening|Screening]]==


Galactosemia Type 2
==[[Galactosemia Risk factors|Risk factors]]==


Galactosemia type 2 is less common than classic galactosemia and is less harmful. It does not generally lead to hepatomegaly or brain damage. It is caused by the defect in both copies of the gene that codes for the enzyme galactokinase or GALK.
==[[Galactosemia natural history, complications and prognosis|Natural History, Complications and Prognosis]]==


Galactosemia type 3
==[[Galactosemia diagnosis|Diagnosis]]==


Galactosemia type 3 is a very rare form of the disorder. There are two forms of Galactosemia type 3, a severe form and a benign form. This type of galactosemia is caused by defects in the gene that codes for the enzyme uridyldiphosphogalactose-4-epimerase or GALE.
[[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]]


==[[Galactosemia pathophysiology|Pathophysiology]]==
==[[Galactosemia treatment|Treatment]]==
==[[Galactosemia causes|Causes]]==
==[[Galactosemia differential diagnosis|Differentiating Galactosemia from other Diseases]]==
 
==[[Galactosemia epidemiology and demographics|Epidemiology and Demographics]]==


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


==[[Galactosemia natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
==[[Galactosemia case studies|Case Studies]]==
==Diagnosis==
[[Galactosemia history and symptoms|History and Symptoms]] | [[Galactosemia physical examination|Physical Examination]] | [[Galactosemia laboratory findings|Laboratory Findings]] | [[Galactosemia CT|CT]] | [[Galactosemia MRI|MRI]] | [[Galactosemia echocardiography or ultrasound|Ultrasound ]] | [[Galactosemia other imaging findings|Other Imaging Findings]] | [[Galactosemia other diagnostic studies|Other Diagnostic Studies]]
 
==Treatment==
[[Galactosemia medical therapy|Medical Therapy]] | [[Galactosemia surgery|Surgery]] | [[Galactosemia primary prevention|Primary Prevention]] | [[Galactosemia secondary prevention|Secondary Prevention]]
 
==Case Studies==
[[Galactosemia case study one|Case #1]]
[[Galactosemia case study one|Case #1]]


{{Metabolic pathology}}
{{Metabolic pathology}}
[[Category:Inborn errors of metabolism]]
[[Category:Endocrinology]]
[[Category:Genetic disorders]]
[[Category:Metabolic disorders]]
{{WikiDoc Help Menu}}
{{WikiDoc Help Menu}}
{{WikiDoc Sources}}
{{WikiDoc Sources}}

Latest revision as of 15:04, 18 August 2022

Galactosemia Microchapters

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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

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Primary Prevention

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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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