Orotic aciduria: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Orotic aciduria | |||
| image = [[File:Orotic_acid.svg|150px]] | |||
| caption = Chemical structure of orotic acid | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Megaloblastic anemia]], [[failure to thrive]], [[developmental delay]] | |||
| complications = [[Growth retardation]], [[intellectual disability]] | |||
| onset = [[Infancy]] | |||
| duration = [[Chronic]] | |||
| types = Type I, Type II | |||
| causes = [[Genetic mutation]] in the [[UMPS]] gene | |||
| risks = [[Consanguinity]] | |||
| diagnosis = [[Urine test]] for elevated orotic acid, [[genetic testing]] | |||
| differential = [[Hereditary orotic aciduria]], [[ornithine transcarbamylase deficiency]] | |||
| prevention = Genetic counseling | |||
| treatment = [[Uridine monophosphate]] supplementation | |||
| medication = Uridine | |||
| prognosis = Good with treatment | |||
| frequency = Rare | |||
}} | |||
[[File:Autosomal_recessive_-_en.svg|Diagram of autosomal recessive inheritance|thumb|left]] | |||
'''Orotic Aciduria''' is a rare metabolic disorder characterized by an excess of orotic acid in the urine. It is often associated with megaloblastic anemia and mental and physical retardation. The disorder is inherited in an autosomal recessive manner. | '''Orotic Aciduria''' is a rare metabolic disorder characterized by an excess of orotic acid in the urine. It is often associated with megaloblastic anemia and mental and physical retardation. The disorder is inherited in an autosomal recessive manner. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of Orotic Aciduria can vary greatly from person to person. However, some common symptoms include: | The symptoms of Orotic Aciduria can vary greatly from person to person. However, some common symptoms include: | ||
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* [[Failure to thrive]] | * [[Failure to thrive]] | ||
* [[Developmental delay]] | * [[Developmental delay]] | ||
== Causes == | == Causes == | ||
Orotic Aciduria is caused by a deficiency in the enzyme [[orotate phosphoribosyltransferase]] and [[orotidine 5'-phosphate decarboxylase]]. These enzymes are involved in the synthesis of [[pyrimidine]], a component of DNA and RNA. | Orotic Aciduria is caused by a deficiency in the enzyme [[orotate phosphoribosyltransferase]] and [[orotidine 5'-phosphate decarboxylase]]. These enzymes are involved in the synthesis of [[pyrimidine]], a component of DNA and RNA. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of Orotic Aciduria is typically made through a urine test, which will show elevated levels of orotic acid. Genetic testing may also be used to confirm the diagnosis. | The diagnosis of Orotic Aciduria is typically made through a urine test, which will show elevated levels of orotic acid. Genetic testing may also be used to confirm the diagnosis. | ||
== Treatment == | == Treatment == | ||
Treatment for Orotic Aciduria typically involves dietary supplementation with [[uridine]], which can help to reduce the levels of orotic acid in the body. | Treatment for Orotic Aciduria typically involves dietary supplementation with [[uridine]], which can help to reduce the levels of orotic acid in the body. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with Orotic Aciduria can vary greatly depending on the severity of the disorder and the individual's response to treatment. However, with early diagnosis and treatment, many individuals with Orotic Aciduria can lead relatively normal lives. | The prognosis for individuals with Orotic Aciduria can vary greatly depending on the severity of the disorder and the individual's response to treatment. However, with early diagnosis and treatment, many individuals with Orotic Aciduria can lead relatively normal lives. | ||
== See Also == | == See Also == | ||
* [[Metabolic disorders]] | * [[Metabolic disorders]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
* [[Inborn errors of metabolism]] | * [[Inborn errors of metabolism]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Inborn errors of metabolism]] | [[Category:Inborn errors of metabolism]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 05:41, 9 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics
| Orotic aciduria | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Megaloblastic anemia, failure to thrive, developmental delay |
| Complications | Growth retardation, intellectual disability |
| Onset | Infancy |
| Duration | Chronic |
| Types | Type I, Type II |
| Causes | Genetic mutation in the UMPS gene |
| Risks | Consanguinity |
| Diagnosis | Urine test for elevated orotic acid, genetic testing |
| Differential diagnosis | Hereditary orotic aciduria, ornithine transcarbamylase deficiency |
| Prevention | Genetic counseling |
| Treatment | Uridine monophosphate supplementation |
| Medication | Uridine |
| Prognosis | Good with treatment |
| Frequency | Rare |
| Deaths | N/A |
Orotic Aciduria is a rare metabolic disorder characterized by an excess of orotic acid in the urine. It is often associated with megaloblastic anemia and mental and physical retardation. The disorder is inherited in an autosomal recessive manner.
Symptoms[edit]
The symptoms of Orotic Aciduria can vary greatly from person to person. However, some common symptoms include:
Causes[edit]
Orotic Aciduria is caused by a deficiency in the enzyme orotate phosphoribosyltransferase and orotidine 5'-phosphate decarboxylase. These enzymes are involved in the synthesis of pyrimidine, a component of DNA and RNA.
Diagnosis[edit]
The diagnosis of Orotic Aciduria is typically made through a urine test, which will show elevated levels of orotic acid. Genetic testing may also be used to confirm the diagnosis.
Treatment[edit]
Treatment for Orotic Aciduria typically involves dietary supplementation with uridine, which can help to reduce the levels of orotic acid in the body.
Prognosis[edit]
The prognosis for individuals with Orotic Aciduria can vary greatly depending on the severity of the disorder and the individual's response to treatment. However, with early diagnosis and treatment, many individuals with Orotic Aciduria can lead relatively normal lives.
