Galactosemia: Difference between revisions

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{{Galactosemia}}
{{Galactosemia}}
{{CMG}}; {{AE}}
{{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==
==Types==

Revision as of 08:54, 10 May 2022

Galactosemia Microchapters

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Diagnosis

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Risk calculators and risk factors for 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

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

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

Classification

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

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

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.[4] 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. [5]

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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

Case #1

Template:Metabolic pathology

Template:WikiDoc Sources

  1. 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).
  2. 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.
  3. 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.
  4. Timson DJ (2006). "The structural and molecular biology of type III galactosemia". IUBMB Life. 58 (2): 83–9. doi:10.1080/15216540600644846. PMID 16611573.
  5. Banford S, Timson DJ (2021). "The structural and molecular biology of type IV galactosemia". Biochimie. 183: 13–17. doi:10.1016/j.biochi.2020.11.001. PMID 33181226 Check |pmid= value (help).