Pipecolic acidemia: Difference between revisions
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{{Infobox medical condition | |||
| name = Pipecolic acidemia | |||
| image = [[File:Piperidine-2-carboxylic_acid.png|left|thumb|Pipecolic acid structure]] | |||
| caption = Structure of pipecolic acid | |||
| synonyms = Hyperpipecolic acidemia | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Developmental delay]], [[seizures]], [[hypotonia]], [[hepatomegaly]] | |||
| complications = [[Liver dysfunction]], [[neurological impairment]] | |||
| onset = [[Infancy]] | |||
| duration = [[Chronic]] | |||
| causes = [[Genetic mutation]] | |||
| risks = [[Family history]] | |||
| diagnosis = [[Blood test]], [[urine test]], [[genetic testing]] | |||
| differential = [[Zellweger spectrum disorders]], [[peroxisomal disorders]] | |||
| prevention = None | |||
| treatment = [[Symptomatic treatment]], [[dietary management]] | |||
| medication = None specific | |||
| prognosis = Variable, depends on severity | |||
| frequency = Rare | |||
| deaths = Not commonly reported | |||
}} | |||
'''Pipecolic acidemia''' is a rare [[metabolic disorder]] characterized by the abnormal accumulation of a substance known as [[pipecolic acid]] in the body's cells and tissues. This condition is classified as an [[organic acidemia]] and is typically diagnosed in infancy or early childhood. | '''Pipecolic acidemia''' is a rare [[metabolic disorder]] characterized by the abnormal accumulation of a substance known as [[pipecolic acid]] in the body's cells and tissues. This condition is classified as an [[organic acidemia]] and is typically diagnosed in infancy or early childhood. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of pipecolic acidemia can vary widely among affected individuals. Common symptoms include [[developmental delay]], [[seizures]], [[hypotonia]] (low muscle tone), and [[hepatomegaly]] (enlarged liver). Some individuals may also exhibit [[microcephaly]] (small head size), [[failure to thrive]], and [[intellectual disability]]. | The symptoms of pipecolic acidemia can vary widely among affected individuals. Common symptoms include [[developmental delay]], [[seizures]], [[hypotonia]] (low muscle tone), and [[hepatomegaly]] (enlarged liver). Some individuals may also exhibit [[microcephaly]] (small head size), [[failure to thrive]], and [[intellectual disability]]. | ||
== Causes == | == Causes == | ||
Pipecolic acidemia is caused by mutations in the [[ALDH6A1]] gene. This gene provides instructions for making an enzyme that is involved in the breakdown of [[lysine]], an [[amino acid]]. Mutations in the ALDH6A1 gene disrupt the normal breakdown of lysine, leading to the accumulation of pipecolic acid. | Pipecolic acidemia is caused by mutations in the [[ALDH6A1]] gene. This gene provides instructions for making an enzyme that is involved in the breakdown of [[lysine]], an [[amino acid]]. Mutations in the ALDH6A1 gene disrupt the normal breakdown of lysine, leading to the accumulation of pipecolic acid. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of pipecolic acidemia is typically made through [[biochemical genetic testing]], which can detect elevated levels of pipecolic acid in the body. [[Molecular genetic testing]] can also be used to identify mutations in the ALDH6A1 gene. | Diagnosis of pipecolic acidemia is typically made through [[biochemical genetic testing]], which can detect elevated levels of pipecolic acid in the body. [[Molecular genetic testing]] can also be used to identify mutations in the ALDH6A1 gene. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for pipecolic acidemia. Treatment is symptomatic and supportive, and may include [[dietary management]], [[physical therapy]], and medications to manage seizures. | There is currently no cure for pipecolic acidemia. Treatment is symptomatic and supportive, and may include [[dietary management]], [[physical therapy]], and medications to manage seizures. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with pipecolic acidemia varies depending on the severity of symptoms and the individual's response to treatment. With appropriate management, some individuals may live into adulthood. | The prognosis for individuals with pipecolic acidemia varies depending on the severity of symptoms and the individual's response to treatment. With appropriate management, some individuals may live into adulthood. | ||
== See also == | == See also == | ||
* [[Organic acidemia]] | * [[Organic acidemia]] | ||
* [[Metabolic disorder]] | * [[Metabolic disorder]] | ||
* [[ALDH6A1]] | * [[ALDH6A1]] | ||
* [[Lysine]] | * [[Lysine]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
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{{Metabolic disorder}} | {{Metabolic disorder}} | ||
{{Medicine-stub}} | {{Medicine-stub}} | ||
Latest revision as of 22:07, 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
| Pipecolic acidemia | |
|---|---|
 | |
| Synonyms | Hyperpipecolic acidemia |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Developmental delay, seizures, hypotonia, hepatomegaly |
| Complications | Liver dysfunction, neurological impairment |
| Onset | Infancy |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Blood test, urine test, genetic testing |
| Differential diagnosis | Zellweger spectrum disorders, peroxisomal disorders |
| Prevention | None |
| Treatment | Symptomatic treatment, dietary management |
| Medication | None specific |
| Prognosis | Variable, depends on severity |
| Frequency | Rare |
| Deaths | Not commonly reported |
Pipecolic acidemia is a rare metabolic disorder characterized by the abnormal accumulation of a substance known as pipecolic acid in the body's cells and tissues. This condition is classified as an organic acidemia and is typically diagnosed in infancy or early childhood.
Symptoms[edit]
The symptoms of pipecolic acidemia can vary widely among affected individuals. Common symptoms include developmental delay, seizures, hypotonia (low muscle tone), and hepatomegaly (enlarged liver). Some individuals may also exhibit microcephaly (small head size), failure to thrive, and intellectual disability.
Causes[edit]
Pipecolic acidemia is caused by mutations in the ALDH6A1 gene. This gene provides instructions for making an enzyme that is involved in the breakdown of lysine, an amino acid. Mutations in the ALDH6A1 gene disrupt the normal breakdown of lysine, leading to the accumulation of pipecolic acid.
Diagnosis[edit]
Diagnosis of pipecolic acidemia is typically made through biochemical genetic testing, which can detect elevated levels of pipecolic acid in the body. Molecular genetic testing can also be used to identify mutations in the ALDH6A1 gene.
Treatment[edit]
There is currently no cure for pipecolic acidemia. Treatment is symptomatic and supportive, and may include dietary management, physical therapy, and medications to manage seizures.
Prognosis[edit]
The prognosis for individuals with pipecolic acidemia varies depending on the severity of symptoms and the individual's response to treatment. With appropriate management, some individuals may live into adulthood.
See also[edit]
NIH genetic and rare disease info[edit]
Pipecolic acidemia is a rare disease.
| Rare and genetic diseases | ||||||
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Rare diseases - Pipecolic acidemia
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| Metabolic disorders | ||||||||||
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This metabolic disorder related article is a stub.
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