Hartnup disease: Difference between revisions
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[[File:L-tryptophan-skeletal.png|L-tryptophan- | {{SI}} | ||
{{Infobox medical condition | |||
| name = Hartnup disease | |||
| image = [[File:L-tryptophan-skeletal.png|left|thumb|L-tryptophan]] | |||
| caption = L-tryptophan, an amino acid affected in Hartnup disease | |||
| synonyms = Hartnup disorder, Hartnup syndrome | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Photosensitivity]], [[pellagra-like skin rash]], [[ataxia]], [[aminoaciduria]] | |||
| onset = Usually in childhood | |||
| duration = Lifelong | |||
| causes = Mutations in the [[SLC6A19]] gene | |||
| risks = Genetic inheritance (autosomal recessive) | |||
| diagnosis = [[Urinalysis]], [[genetic testing]] | |||
| differential = [[Pellagra]], [[niacin deficiency]] | |||
| treatment = [[High-protein diet]], [[niacin]] supplementation | |||
| medication = [[Niacin]] | |||
| prognosis = Good with treatment | |||
| frequency = Rare | |||
| deaths = Rarely fatal | |||
}} | |||
'''Hartnup disease''' is a rare [[autosomal recessive]] metabolic disorder that affects the absorption of certain amino acids, particularly [[tryptophan]], in the intestines and kidneys. This condition is named after the Hartnup family, in which the disease was first identified. | |||
== Pathophysiology == | == Pathophysiology == | ||
Hartnup disease is caused by mutations in the [[SLC6A19]] gene, which encodes a transporter protein responsible for the absorption of neutral amino acids in the [[renal tubules]] and [[intestinal epithelium]]. The defective transporter leads to increased excretion of these amino acids in the urine and decreased absorption from the diet, resulting in a deficiency of essential amino acids. | Hartnup disease is caused by mutations in the [[SLC6A19]] gene, which encodes a transporter protein responsible for the absorption of neutral amino acids in the [[renal tubules]] and [[intestinal epithelium]]. The defective transporter leads to increased excretion of these amino acids in the urine and decreased absorption from the diet, resulting in a deficiency of essential amino acids. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of Hartnup disease can vary widely among affected individuals. Common symptoms include: | The symptoms of Hartnup disease can vary widely among affected individuals. Common symptoms include: | ||
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* [[Psychiatric symptoms]] such as [[depression]] and [[anxiety]] | * [[Psychiatric symptoms]] such as [[depression]] and [[anxiety]] | ||
* [[Pellagra]]-like symptoms due to tryptophan deficiency, which can lead to a deficiency in [[niacin]] (vitamin B3) | * [[Pellagra]]-like symptoms due to tryptophan deficiency, which can lead to a deficiency in [[niacin]] (vitamin B3) | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Hartnup disease is typically based on clinical symptoms and confirmed by laboratory tests showing increased levels of neutral amino acids in the urine. Genetic testing can identify mutations in the [[SLC6A19]] gene. | Diagnosis of Hartnup disease is typically based on clinical symptoms and confirmed by laboratory tests showing increased levels of neutral amino acids in the urine. Genetic testing can identify mutations in the [[SLC6A19]] gene. | ||
== Treatment == | == Treatment == | ||
Treatment for Hartnup disease focuses on managing symptoms and preventing complications. This may include: | Treatment for Hartnup disease focuses on managing symptoms and preventing complications. This may include: | ||
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* [[Niacin]] supplements to prevent pellagra-like symptoms | * [[Niacin]] supplements to prevent pellagra-like symptoms | ||
* Avoidance of sun exposure to prevent photosensitivity rashes | * Avoidance of sun exposure to prevent photosensitivity rashes | ||
== Prognosis == | == Prognosis == | ||
With appropriate management, individuals with Hartnup disease can lead normal lives. However, untreated or poorly managed cases can result in significant complications, particularly related to the skin and nervous system. | With appropriate management, individuals with Hartnup disease can lead normal lives. However, untreated or poorly managed cases can result in significant complications, particularly related to the skin and nervous system. | ||
== See also == | == See also == | ||
* [[Amino acid metabolism]] | * [[Amino acid metabolism]] | ||
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* [[Pellagra]] | * [[Pellagra]] | ||
* [[SLC6A19]] | * [[SLC6A19]] | ||
== References == | == References == | ||
{{Reflist}} | {{Reflist}} | ||
== External links == | == External links == | ||
{{Commons category|Hartnup disease}} | {{Commons category|Hartnup disease}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Autosomal recessive disorders]] | [[Category:Autosomal recessive disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 03:58, 7 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
| Hartnup disease | |
|---|---|
 | |
| Synonyms | Hartnup disorder, Hartnup syndrome |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Photosensitivity, pellagra-like skin rash, ataxia, aminoaciduria |
| Complications | N/A |
| Onset | Usually in childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the SLC6A19 gene |
| Risks | Genetic inheritance (autosomal recessive) |
| Diagnosis | Urinalysis, genetic testing |
| Differential diagnosis | Pellagra, niacin deficiency |
| Prevention | N/A |
| Treatment | High-protein diet, niacin supplementation |
| Medication | Niacin |
| Prognosis | Good with treatment |
| Frequency | Rare |
| Deaths | Rarely fatal |
Hartnup disease is a rare autosomal recessive metabolic disorder that affects the absorption of certain amino acids, particularly tryptophan, in the intestines and kidneys. This condition is named after the Hartnup family, in which the disease was first identified.
Pathophysiology[edit]
Hartnup disease is caused by mutations in the SLC6A19 gene, which encodes a transporter protein responsible for the absorption of neutral amino acids in the renal tubules and intestinal epithelium. The defective transporter leads to increased excretion of these amino acids in the urine and decreased absorption from the diet, resulting in a deficiency of essential amino acids.
Symptoms[edit]
The symptoms of Hartnup disease can vary widely among affected individuals. Common symptoms include:
- Photosensitivity rash
- Ataxia
- Psychiatric symptoms such as depression and anxiety
- Pellagra-like symptoms due to tryptophan deficiency, which can lead to a deficiency in niacin (vitamin B3)
Diagnosis[edit]
Diagnosis of Hartnup disease is typically based on clinical symptoms and confirmed by laboratory tests showing increased levels of neutral amino acids in the urine. Genetic testing can identify mutations in the SLC6A19 gene.
Treatment[edit]
Treatment for Hartnup disease focuses on managing symptoms and preventing complications. This may include:
- High-protein diet to ensure adequate intake of essential amino acids
- Niacin supplements to prevent pellagra-like symptoms
- Avoidance of sun exposure to prevent photosensitivity rashes
Prognosis[edit]
With appropriate management, individuals with Hartnup disease can lead normal lives. However, untreated or poorly managed cases can result in significant complications, particularly related to the skin and nervous system.
See also[edit]
References[edit]
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External links[edit]
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