Glucose-galactose malabsorption: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Glucose-galactose malabsorption | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = Glucose-galactose malabsorption is inherited in an [[autosomal recessive]] pattern. | |||
| field = [[Gastroenterology]] | |||
| symptoms = Severe [[diarrhea]], [[dehydration]], [[failure to thrive]] | |||
| onset = [[Infancy]] | |||
| duration = Lifelong | |||
| causes = Mutations in the [[SLC5A1]] gene | |||
| risks = Family history of the condition | |||
| diagnosis = [[Genetic testing]], [[hydrogen breath test]] | |||
| differential = [[Lactose intolerance]], [[fructose malabsorption]] | |||
| treatment = [[Glucose]] and [[galactose]]-free diet | |||
| medication = None specific | |||
| prognosis = Good with dietary management | |||
| frequency = Rare | |||
}} | |||
'''Glucose-galactose malabsorption''' is a rare genetic metabolic disorder characterized by the body's inability to properly absorb [[glucose]] and [[galactose]] from the gut. The condition is caused by mutations in the SLC5A1 gene and is inherited in an autosomal recessive manner. | '''Glucose-galactose malabsorption''' is a rare genetic metabolic disorder characterized by the body's inability to properly absorb [[glucose]] and [[galactose]] from the gut. The condition is caused by mutations in the SLC5A1 gene and is inherited in an autosomal recessive manner. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of glucose-galactose malabsorption typically become apparent in the first few weeks of life. These may include severe [[diarrhea]], [[dehydration]], failure to thrive, and malnutrition. If untreated, the condition can lead to life-threatening complications. | The symptoms of glucose-galactose malabsorption typically become apparent in the first few weeks of life. These may include severe [[diarrhea]], [[dehydration]], failure to thrive, and malnutrition. If untreated, the condition can lead to life-threatening complications. | ||
== Causes == | == Causes == | ||
Glucose-galactose malabsorption is caused by mutations in the SLC5A1 gene. This gene provides instructions for producing a protein that is involved in the absorption of glucose and galactose in the intestines. Mutations in the SLC5A1 gene disrupt the function of this protein, preventing the absorption of these sugars and leading to the symptoms of glucose-galactose malabsorption. | Glucose-galactose malabsorption is caused by mutations in the SLC5A1 gene. This gene provides instructions for producing a protein that is involved in the absorption of glucose and galactose in the intestines. Mutations in the SLC5A1 gene disrupt the function of this protein, preventing the absorption of these sugars and leading to the symptoms of glucose-galactose malabsorption. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of glucose-galactose malabsorption is typically made based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests. These tests may include a stool analysis to detect the presence of glucose, and a biopsy of the small intestine to examine the cells that absorb nutrients. | The diagnosis of glucose-galactose malabsorption is typically made based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests. These tests may include a stool analysis to detect the presence of glucose, and a biopsy of the small intestine to examine the cells that absorb nutrients. | ||
== Treatment == | == Treatment == | ||
The treatment of glucose-galactose malabsorption involves a specialized diet that is free of glucose and galactose. This diet allows for the proper absorption of other nutrients and helps to alleviate the symptoms of the condition. In some cases, medications may be used to manage symptoms. | The treatment of glucose-galactose malabsorption involves a specialized diet that is free of glucose and galactose. This diet allows for the proper absorption of other nutrients and helps to alleviate the symptoms of the condition. In some cases, medications may be used to manage symptoms. | ||
== Prognosis == | == Prognosis == | ||
With early diagnosis and appropriate dietary management, individuals with glucose-galactose malabsorption can lead healthy lives. However, without treatment, the condition can lead to severe malnutrition and life-threatening complications. | With early diagnosis and appropriate dietary management, individuals with glucose-galactose malabsorption can lead healthy lives. However, without treatment, the condition can lead to severe malnutrition and life-threatening complications. | ||
== See also == | == See also == | ||
* [[SLC5A1]] | * [[SLC5A1]] | ||
| Line 22: | Line 34: | ||
* [[Metabolic disorder]] | * [[Metabolic disorder]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 20:29, 6 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
| Glucose-galactose malabsorption | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Severe diarrhea, dehydration, failure to thrive |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the SLC5A1 gene |
| Risks | Family history of the condition |
| Diagnosis | Genetic testing, hydrogen breath test |
| Differential diagnosis | Lactose intolerance, fructose malabsorption |
| Prevention | N/A |
| Treatment | Glucose and galactose-free diet |
| Medication | None specific |
| Prognosis | Good with dietary management |
| Frequency | Rare |
| Deaths | N/A |
Glucose-galactose malabsorption is a rare genetic metabolic disorder characterized by the body's inability to properly absorb glucose and galactose from the gut. The condition is caused by mutations in the SLC5A1 gene and is inherited in an autosomal recessive manner.
Symptoms[edit]
The symptoms of glucose-galactose malabsorption typically become apparent in the first few weeks of life. These may include severe diarrhea, dehydration, failure to thrive, and malnutrition. If untreated, the condition can lead to life-threatening complications.
Causes[edit]
Glucose-galactose malabsorption is caused by mutations in the SLC5A1 gene. This gene provides instructions for producing a protein that is involved in the absorption of glucose and galactose in the intestines. Mutations in the SLC5A1 gene disrupt the function of this protein, preventing the absorption of these sugars and leading to the symptoms of glucose-galactose malabsorption.
Diagnosis[edit]
The diagnosis of glucose-galactose malabsorption is typically made based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests. These tests may include a stool analysis to detect the presence of glucose, and a biopsy of the small intestine to examine the cells that absorb nutrients.
Treatment[edit]
The treatment of glucose-galactose malabsorption involves a specialized diet that is free of glucose and galactose. This diet allows for the proper absorption of other nutrients and helps to alleviate the symptoms of the condition. In some cases, medications may be used to manage symptoms.
Prognosis[edit]
With early diagnosis and appropriate dietary management, individuals with glucose-galactose malabsorption can lead healthy lives. However, without treatment, the condition can lead to severe malnutrition and life-threatening complications.
