Hyperprolinemia: Difference between revisions
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'''Hyperprolinemia''' is a condition characterized by elevated levels of a particular amino acid called proline in the blood. This condition can occur in two forms, known as type I and type II. | {{SI}} | ||
{{Infobox medical condition | |||
| name = Hyperprolinemia | |||
| image = [[File:L-proline-skeletal.png|alt=L-proline-skeletal.png|frameless]] | |||
| caption = Skeletal formula of [[L-proline]] | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Seizures]], [[intellectual disability]], [[schizophrenia]] | |||
| onset = [[Infancy]] or [[childhood]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] in [[PRODH]] or [[ALDH4A1]] | |||
| risks = [[Family history]] | |||
| diagnosis = [[Blood test]], [[urine test]] | |||
| differential = [[Hyperornithinemia]], [[hyperammonemia]] | |||
| treatment = [[Dietary management]], [[medication]] | |||
| frequency = Rare | |||
}} | |||
[[File:autorecessive.svg|Hyperprolinemia|thumb|left]] | |||
'''Hyperprolinemia''' is a condition characterized by elevated levels of a particular amino acid called proline in the blood. This condition can occur in two forms, known as type I and type II. | |||
==Type I Hyperprolinemia== | ==Type I Hyperprolinemia== | ||
Type I hyperprolinemia is the milder form of the condition. It is often detected during newborn screening or during family studies following the diagnosis of a sibling. Most individuals with type I hyperprolinemia are asymptomatic and have normal growth and development. | Type I hyperprolinemia is the milder form of the condition. It is often detected during newborn screening or during family studies following the diagnosis of a sibling. Most individuals with type I hyperprolinemia are asymptomatic and have normal growth and development. | ||
==Type II Hyperprolinemia== | ==Type II Hyperprolinemia== | ||
Type II hyperprolinemia is a more severe form of the condition. It is associated with intellectual disability and seizures. | Type II hyperprolinemia is a more severe form of the condition. It is associated with intellectual disability and seizures. | ||
==Causes== | ==Causes== | ||
Hyperprolinemia is caused by mutations in the [[PRODH]] gene (type I) or the [[ALDH4A1]] gene (type II). These genes provide instructions for making enzymes that are involved in the breakdown of the amino acid proline. | Hyperprolinemia is caused by mutations in the [[PRODH]] gene (type I) or the [[ALDH4A1]] gene (type II). These genes provide instructions for making enzymes that are involved in the breakdown of the amino acid proline. | ||
==Diagnosis== | ==Diagnosis== | ||
Hyperprolinemia is diagnosed based on the symptoms, clinical exam, and confirmed by laboratory testing showing elevated levels of proline in the blood. | Hyperprolinemia is diagnosed based on the symptoms, clinical exam, and confirmed by laboratory testing showing elevated levels of proline in the blood. | ||
==Treatment== | ==Treatment== | ||
There is no specific treatment for hyperprolinemia. Management is supportive and depends on the symptoms in each individual. | There is no specific treatment for hyperprolinemia. Management is supportive and depends on the symptoms in each individual. | ||
==See Also== | ==See Also== | ||
* [[Amino acid]] | * [[Amino acid]] | ||
* [[PRODH]] | * [[PRODH]] | ||
* [[ALDH4A1]] | * [[ALDH4A1]] | ||
==References== | ==References== | ||
* Genetics Home Reference. Hyperprolinemia. Available at: https://ghr.nlm.nih.gov/condition/hyperprolinemia | * Genetics Home Reference. Hyperprolinemia. Available at: https://ghr.nlm.nih.gov/condition/hyperprolinemia | ||
* National Organization for Rare Disorders. Hyperprolinemia Type I. Available at: https://rarediseases.org/rare-diseases/hyperprolinemia-type-i/ | * National Organization for Rare Disorders. Hyperprolinemia Type I. Available at: https://rarediseases.org/rare-diseases/hyperprolinemia-type-i/ | ||
[[Category:Medical Conditions]] | [[Category:Medical Conditions]] | ||
[[Category:Genetic Disorders]] | [[Category:Genetic Disorders]] | ||
[[Category:Metabolic Disorders]] | [[Category:Metabolic Disorders]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 04:09, 9 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
| Hyperprolinemia | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Seizures, intellectual disability, schizophrenia |
| Complications | N/A |
| Onset | Infancy or childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in PRODH or ALDH4A1 |
| Risks | Family history |
| Diagnosis | Blood test, urine test |
| Differential diagnosis | Hyperornithinemia, hyperammonemia |
| Prevention | N/A |
| Treatment | Dietary management, medication |
| Medication | N/A |
| Prognosis | N/A |
| Frequency | Rare |
| Deaths | N/A |
Hyperprolinemia is a condition characterized by elevated levels of a particular amino acid called proline in the blood. This condition can occur in two forms, known as type I and type II.
Type I Hyperprolinemia[edit]
Type I hyperprolinemia is the milder form of the condition. It is often detected during newborn screening or during family studies following the diagnosis of a sibling. Most individuals with type I hyperprolinemia are asymptomatic and have normal growth and development.
Type II Hyperprolinemia[edit]
Type II hyperprolinemia is a more severe form of the condition. It is associated with intellectual disability and seizures.
Causes[edit]
Hyperprolinemia is caused by mutations in the PRODH gene (type I) or the ALDH4A1 gene (type II). These genes provide instructions for making enzymes that are involved in the breakdown of the amino acid proline.
Diagnosis[edit]
Hyperprolinemia is diagnosed based on the symptoms, clinical exam, and confirmed by laboratory testing showing elevated levels of proline in the blood.
Treatment[edit]
There is no specific treatment for hyperprolinemia. Management is supportive and depends on the symptoms in each individual.
See Also[edit]
References[edit]
- Genetics Home Reference. Hyperprolinemia. Available at: https://ghr.nlm.nih.gov/condition/hyperprolinemia
- National Organization for Rare Disorders. Hyperprolinemia Type I. Available at: https://rarediseases.org/rare-diseases/hyperprolinemia-type-i/
