Hawkinsinuria: Difference between revisions
CSV import |
CSV import |
||
| Line 1: | Line 1: | ||
{{SI}} | |||
{{Infobox medical condition | |||
| name = Hawkinsinuria | |||
| image = [[File:Hawkinsin.png]] | |||
| caption = Chemical structure of [[Hawkinsin]] | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Metabolic acidosis]], [[failure to thrive]], [[tyrosinemia]] | |||
| onset = Infancy | |||
| duration = | |||
| types = | |||
| causes = [[Genetic mutation]] in the [[HPD gene]] | |||
| risks = | |||
| diagnosis = [[Urine organic acid analysis]], [[genetic testing]] | |||
| differential = | |||
| prevention = | |||
| treatment = [[Dietary management]], [[ascorbic acid]] supplementation | |||
| medication = | |||
| prognosis = Generally good with treatment | |||
| frequency = Very rare | |||
| deaths = | |||
}} | |||
'''Hawkinsinuria''' is a rare [[genetic disorder]] characterized by the presence of the chemical hawkinsin in the urine. This condition is typically diagnosed in infancy and can cause metabolic acidosis, failure to thrive, and delays in physical and intellectual development. However, the severity of these symptoms can vary widely among affected individuals. | '''Hawkinsinuria''' is a rare [[genetic disorder]] characterized by the presence of the chemical hawkinsin in the urine. This condition is typically diagnosed in infancy and can cause metabolic acidosis, failure to thrive, and delays in physical and intellectual development. However, the severity of these symptoms can vary widely among affected individuals. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of hawkinsinuria can vary widely among affected individuals. Some common symptoms include: | The symptoms of hawkinsinuria can vary widely among affected individuals. Some common symptoms include: | ||
* [[Metabolic acidosis]] | * [[Metabolic acidosis]] | ||
* Failure to thrive | * Failure to thrive | ||
| Line 10: | Line 30: | ||
* Skin rashes | * Skin rashes | ||
* Diarrhea | * Diarrhea | ||
== Causes == | == Causes == | ||
Hawkinsinuria is caused by mutations in the [[HPD]] gene. This gene provides instructions for making an enzyme called 4-hydroxyphenylpyruvate dioxygenase, which is involved in the breakdown of the amino acid tyrosine. Mutations in the HPD gene disrupt the normal function of this enzyme, leading to the buildup of a toxic substance called hawkinsin in the body. | Hawkinsinuria is caused by mutations in the [[HPD]] gene. This gene provides instructions for making an enzyme called 4-hydroxyphenylpyruvate dioxygenase, which is involved in the breakdown of the amino acid tyrosine. Mutations in the HPD gene disrupt the normal function of this enzyme, leading to the buildup of a toxic substance called hawkinsin in the body. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of hawkinsinuria is typically made through a urine test, which can detect the presence of hawkinsin. Genetic testing can also be used to confirm the diagnosis. | Diagnosis of hawkinsinuria is typically made through a urine test, which can detect the presence of hawkinsin. Genetic testing can also be used to confirm the diagnosis. | ||
== Treatment == | == Treatment == | ||
Treatment for hawkinsinuria typically involves a diet low in tyrosine and phenylalanine, another amino acid that can build up in the body as a result of the disorder. In some cases, medication may also be used to help manage symptoms. | Treatment for hawkinsinuria typically involves a diet low in tyrosine and phenylalanine, another amino acid that can build up in the body as a result of the disorder. In some cases, medication may also be used to help manage symptoms. | ||
== See also == | == See also == | ||
* [[Tyrosinemia]] | * [[Tyrosinemia]] | ||
* [[Metabolic disorder]] | * [[Metabolic disorder]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic 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
| Hawkinsinuria | |
|---|---|
| |
| Synonyms | |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Metabolic acidosis, failure to thrive, tyrosinemia |
| Complications | N/A |
| Onset | Infancy |
| Duration | |
| Types | |
| Causes | Genetic mutation in the HPD gene |
| Risks | |
| Diagnosis | Urine organic acid analysis, genetic testing |
| Differential diagnosis | |
| Prevention | |
| Treatment | Dietary management, ascorbic acid supplementation |
| Medication | |
| Prognosis | Generally good with treatment |
| Frequency | Very rare |
| Deaths | |
Hawkinsinuria is a rare genetic disorder characterized by the presence of the chemical hawkinsin in the urine. This condition is typically diagnosed in infancy and can cause metabolic acidosis, failure to thrive, and delays in physical and intellectual development. However, the severity of these symptoms can vary widely among affected individuals.
Symptoms[edit]
The symptoms of hawkinsinuria can vary widely among affected individuals. Some common symptoms include:
- Metabolic acidosis
- Failure to thrive
- Delays in physical and intellectual development
- Skin rashes
- Diarrhea
Causes[edit]
Hawkinsinuria is caused by mutations in the HPD gene. This gene provides instructions for making an enzyme called 4-hydroxyphenylpyruvate dioxygenase, which is involved in the breakdown of the amino acid tyrosine. Mutations in the HPD gene disrupt the normal function of this enzyme, leading to the buildup of a toxic substance called hawkinsin in the body.
Diagnosis[edit]
Diagnosis of hawkinsinuria is typically made through a urine test, which can detect the presence of hawkinsin. Genetic testing can also be used to confirm the diagnosis.
Treatment[edit]
Treatment for hawkinsinuria typically involves a diet low in tyrosine and phenylalanine, another amino acid that can build up in the body as a result of the disorder. In some cases, medication may also be used to help manage symptoms.
See also[edit]
References[edit]
<references />
