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 '''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 ==
 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 ==
 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 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 ==
 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 ==
 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 ==
 * [[Organic acidemia]]
 * [[Metabolic disorder]]
 * [[ALDH6A1]]
 * [[Lysine]]
 [[Category:Metabolic disorders]]
 [[Category:Rare diseases]]
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 {{Metabolic disorder}}
 {{Medicine-stub}}

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			== Pipecolic acidemia ==
			<gallery>
			File:Piperidine-2-carboxylic_acid.png
			</gallery>

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New page

'''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 ==

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 ==

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 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 ==

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 ==

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 ==

* [[Organic acidemia]]
* [[Metabolic disorder]]
* [[ALDH6A1]]
* [[Lysine]]

[[Category:Metabolic disorders]]
[[Category:Rare diseases]]
{{Rare diseases}}
{{Metabolic disorder}}
{{Medicine-stub}}

Pipecolic acidemia - Revision history

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