Galactosemia: Difference between revisions
| Line 19: | Line 19: | ||
==Overview== | ==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]]. | [[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 06:54, 10 May 2022
|
Galactosemia Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Galactosemia On the Web |
|
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
|
Galactosemia Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Galactosemia On the Web |
|
American Roentgen Ray Society Images of Galactosemia |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [3]; Associate Editor(s)-in-Chief:
Classification
|
Galactosemia Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Galactosemia On the Web |
|
American Roentgen Ray Society Images of Galactosemia |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [4]; Associate Editor(s)-in-Chief:
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 [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]
=
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.
- ↑ Timson DJ (2006). "The structural and molecular biology of type III galactosemia". IUBMB Life. 58 (2): 83–9. doi:10.1080/15216540600644846. PMID 16611573.
- ↑ 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).