Hyperlysinemia: Difference between revisions
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{{Infobox medical condition | |||
| name = Hyperlysinemia | |||
| image = [[File:L-lysine-skeletal.png|left|thumb|L-lysine]] | |||
| caption = Skeletal structure of L-lysine | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Developmental delay]], [[intellectual disability]], [[seizures]] | |||
| onset = | |||
| duration = | |||
| types = | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Blood test]], [[urine test]] | |||
| differential = | |||
| prevention = | |||
| treatment = [[Dietary management]] | |||
| medication = | |||
| prognosis = | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
[[File:Autosomal recessive - en.svg|Autosomal recessive inheritance pattern|thumb|left]] | |||
'''Hyperlysinemia''' is a rare, inherited metabolic disorder characterized by an excess of the amino acid lysine in the blood. It is caused by a deficiency of the enzyme that breaks down lysine. Most individuals with hyperlysinemia do not exhibit symptoms, but some may experience seizures, intellectual disability, or behavioral problems. | '''Hyperlysinemia''' is a rare, inherited metabolic disorder characterized by an excess of the amino acid lysine in the blood. It is caused by a deficiency of the enzyme that breaks down lysine. Most individuals with hyperlysinemia do not exhibit symptoms, but some may experience seizures, intellectual disability, or behavioral problems. | ||
== Causes == | == Causes == | ||
[[Hyperlysinemia]] is caused by a deficiency of the enzyme lysine-ketoglutarate reductase or saccharopine dehydrogenase, which are involved in the breakdown of [[lysine]]. This deficiency is due to mutations in the AASS gene. The disorder is inherited in an autosomal recessive manner, meaning both copies of the gene in each cell have mutations. | [[Hyperlysinemia]] is caused by a deficiency of the enzyme lysine-ketoglutarate reductase or saccharopine dehydrogenase, which are involved in the breakdown of [[lysine]]. This deficiency is due to mutations in the AASS gene. The disorder is inherited in an autosomal recessive manner, meaning both copies of the gene in each cell have mutations. | ||
== Symptoms == | == Symptoms == | ||
Most individuals with hyperlysinemia do not exhibit symptoms. However, some may experience [[seizures]], [[intellectual disability]], or behavioral problems. The severity of symptoms can vary widely among affected individuals. | Most individuals with hyperlysinemia do not exhibit symptoms. However, some may experience [[seizures]], [[intellectual disability]], or behavioral problems. The severity of symptoms can vary widely among affected individuals. | ||
== Diagnosis == | == Diagnosis == | ||
Hyperlysinemia is diagnosed through a blood test that measures the levels of amino acids in the blood. High levels of lysine and sometimes other amino acids can indicate hyperlysinemia. Genetic testing can also be used to identify mutations in the AASS gene. | Hyperlysinemia is diagnosed through a blood test that measures the levels of amino acids in the blood. High levels of lysine and sometimes other amino acids can indicate hyperlysinemia. Genetic testing can also be used to identify mutations in the AASS gene. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for hyperlysinemia. Treatment is symptomatic and supportive, and may include dietary restrictions of lysine and medications to manage seizures. | There is currently no cure for hyperlysinemia. Treatment is symptomatic and supportive, and may include dietary restrictions of lysine and medications to manage seizures. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with hyperlysinemia varies. Some individuals may remain asymptomatic throughout their lives, while others may experience neurological symptoms such as seizures and intellectual disability. | The prognosis for individuals with hyperlysinemia varies. Some individuals may remain asymptomatic throughout their lives, while others may experience neurological symptoms such as seizures and intellectual disability. | ||
== See also == | == See also == | ||
* [[Amino acid disorder]] | * [[Amino acid disorder]] | ||
* [[Metabolic disorder]] | * [[Metabolic disorder]] | ||
* [[Inborn errors of metabolism]] | * [[Inborn errors of metabolism]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Amino acid metabolism disorders]] | [[Category:Amino acid metabolism disorders]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 04:13, 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
| Hyperlysinemia | |
|---|---|
 | |
| Synonyms | |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Developmental delay, intellectual disability, seizures |
| Complications | N/A |
| Onset | |
| Duration | |
| Types | |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Blood test, urine test |
| Differential diagnosis | |
| Prevention | |
| Treatment | Dietary management |
| Medication | |
| Prognosis | |
| Frequency | Rare |
| Deaths | |
Hyperlysinemia is a rare, inherited metabolic disorder characterized by an excess of the amino acid lysine in the blood. It is caused by a deficiency of the enzyme that breaks down lysine. Most individuals with hyperlysinemia do not exhibit symptoms, but some may experience seizures, intellectual disability, or behavioral problems.
Causes[edit]
Hyperlysinemia is caused by a deficiency of the enzyme lysine-ketoglutarate reductase or saccharopine dehydrogenase, which are involved in the breakdown of lysine. This deficiency is due to mutations in the AASS gene. The disorder is inherited in an autosomal recessive manner, meaning both copies of the gene in each cell have mutations.
Symptoms[edit]
Most individuals with hyperlysinemia do not exhibit symptoms. However, some may experience seizures, intellectual disability, or behavioral problems. The severity of symptoms can vary widely among affected individuals.
Diagnosis[edit]
Hyperlysinemia is diagnosed through a blood test that measures the levels of amino acids in the blood. High levels of lysine and sometimes other amino acids can indicate hyperlysinemia. Genetic testing can also be used to identify mutations in the AASS gene.
Treatment[edit]
There is currently no cure for hyperlysinemia. Treatment is symptomatic and supportive, and may include dietary restrictions of lysine and medications to manage seizures.
Prognosis[edit]
The prognosis for individuals with hyperlysinemia varies. Some individuals may remain asymptomatic throughout their lives, while others may experience neurological symptoms such as seizures and intellectual disability.
See also[edit]
References[edit]
<references />
