Galactose epimerase deficiency: Difference between revisions
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{{Infobox medical condition | |||
| name = Galactose epimerase deficiency | |||
| image = [[File:UDP-glucose.png|left|thumb|UDP-glucose]] | |||
| caption = UDP-glucose, a molecule involved in galactose metabolism | |||
| synonyms = GALE deficiency, Type III galactosemia | |||
| field = [[Metabolic disorder]] | |||
| symptoms = [[Cataracts]], [[hepatomegaly]], [[intellectual disability]], [[failure to thrive]] | |||
| onset = [[Infancy]] | |||
| duration = [[Chronic]] | |||
| causes = [[Genetic mutation]] in the [[GALE gene]] | |||
| risks = [[Consanguinity]], [[family history]] | |||
| diagnosis = [[Newborn screening]], [[genetic testing]], [[enzyme assay]] | |||
| differential = [[Galactosemia]], [[lactose intolerance]], [[fructose intolerance]] | |||
| prevention = [[Genetic counseling]] | |||
| treatment = [[Dietary management]], [[galactose restriction]] | |||
| medication = None specific | |||
| prognosis = Variable, depends on severity | |||
| frequency = Rare | |||
| deaths = Rare, with proper management | |||
}} | |||
[[File:Autosomal_recessive_-_en.svg|Autosomal recessive inheritance pattern|thumb|left]] | |||
[[File:Complete_galactose_metabolism.png|Complete galactose metabolism pathway|thumb|left]] | |||
'''Galactose epimerase deficiency''' is a rare genetic metabolic disorder characterized by the body's inability to convert [[galactose]] to [[glucose]]. This condition is caused by mutations in the GALE gene and is inherited in an [[autosomal recessive]] manner. | '''Galactose epimerase deficiency''' is a rare genetic metabolic disorder characterized by the body's inability to convert [[galactose]] to [[glucose]]. This condition is caused by mutations in the GALE gene and is inherited in an [[autosomal recessive]] manner. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of galactose epimerase deficiency can vary greatly from person to person. Some individuals may have no symptoms, while others may experience severe complications. Common symptoms include [[failure to thrive]], [[jaundice]], [[liver disease]], [[kidney failure]], [[cataracts]], and [[intellectual disability]]. | The symptoms of galactose epimerase deficiency can vary greatly from person to person. Some individuals may have no symptoms, while others may experience severe complications. Common symptoms include [[failure to thrive]], [[jaundice]], [[liver disease]], [[kidney failure]], [[cataracts]], and [[intellectual disability]]. | ||
== Causes == | == Causes == | ||
Galactose epimerase deficiency is caused by mutations in the GALE gene. This gene provides instructions for making an enzyme called galactose epimerase, which is involved in the process of converting galactose to glucose. Mutations in the GALE gene disrupt this process, leading to the accumulation of galactose in the body. | Galactose epimerase deficiency is caused by mutations in the GALE gene. This gene provides instructions for making an enzyme called galactose epimerase, which is involved in the process of converting galactose to glucose. Mutations in the GALE gene disrupt this process, leading to the accumulation of galactose in the body. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of galactose epimerase deficiency is typically made through a combination of clinical examination, [[biochemical testing]], and [[genetic testing]]. Biochemical testing can detect elevated levels of galactose in the blood, while genetic testing can identify mutations in the GALE gene. | The diagnosis of galactose epimerase deficiency is typically made through a combination of clinical examination, [[biochemical testing]], and [[genetic testing]]. Biochemical testing can detect elevated levels of galactose in the blood, while genetic testing can identify mutations in the GALE gene. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for galactose epimerase deficiency. Treatment is focused on managing the symptoms and preventing complications. This may involve a [[galactose-free diet]], medications to manage symptoms, and regular monitoring of organ function. | There is currently no cure for galactose epimerase deficiency. Treatment is focused on managing the symptoms and preventing complications. This may involve a [[galactose-free diet]], medications to manage symptoms, and regular monitoring of organ function. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with galactose epimerase deficiency varies depending on the severity of the condition. Some individuals may live a normal life with few symptoms, while others may experience severe complications and have a reduced life expectancy. | The prognosis for individuals with galactose epimerase deficiency varies depending on the severity of the condition. Some individuals may live a normal life with few symptoms, while others may experience severe complications and have a reduced life expectancy. | ||
== See also == | == See also == | ||
* [[Galactosemia]] | * [[Galactosemia]] | ||
* [[Inborn errors of metabolism]] | * [[Inborn errors of metabolism]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 21:15, 9 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Galactose epimerase deficiency | |
|---|---|
 | |
| Synonyms | GALE deficiency, Type III galactosemia |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Cataracts, hepatomegaly, intellectual disability, failure to thrive |
| Complications | N/A |
| Onset | Infancy |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic mutation in the GALE gene |
| Risks | Consanguinity, family history |
| Diagnosis | Newborn screening, genetic testing, enzyme assay |
| Differential diagnosis | Galactosemia, lactose intolerance, fructose intolerance |
| Prevention | Genetic counseling |
| Treatment | Dietary management, galactose restriction |
| Medication | None specific |
| Prognosis | Variable, depends on severity |
| Frequency | Rare |
| Deaths | Rare, with proper management |
Galactose epimerase deficiency is a rare genetic metabolic disorder characterized by the body's inability to convert galactose to glucose. This condition is caused by mutations in the GALE gene and is inherited in an autosomal recessive manner.
Symptoms[edit]
The symptoms of galactose epimerase deficiency can vary greatly from person to person. Some individuals may have no symptoms, while others may experience severe complications. Common symptoms include failure to thrive, jaundice, liver disease, kidney failure, cataracts, and intellectual disability.
Causes[edit]
Galactose epimerase deficiency is caused by mutations in the GALE gene. This gene provides instructions for making an enzyme called galactose epimerase, which is involved in the process of converting galactose to glucose. Mutations in the GALE gene disrupt this process, leading to the accumulation of galactose in the body.
Diagnosis[edit]
The diagnosis of galactose epimerase deficiency is typically made through a combination of clinical examination, biochemical testing, and genetic testing. Biochemical testing can detect elevated levels of galactose in the blood, while genetic testing can identify mutations in the GALE gene.
Treatment[edit]
There is currently no cure for galactose epimerase deficiency. Treatment is focused on managing the symptoms and preventing complications. This may involve a galactose-free diet, medications to manage symptoms, and regular monitoring of organ function.
Prognosis[edit]
The prognosis for individuals with galactose epimerase deficiency varies depending on the severity of the condition. Some individuals may live a normal life with few symptoms, while others may experience severe complications and have a reduced life expectancy.
