Ornithine translocase deficiency: Difference between revisions
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{{Infobox medical condition | |||
| name = Ornithine translocase deficiency | |||
| image = [[File:L-Ornithine_structure.svg|150px]] | |||
| caption = Structure of L-Ornithine | |||
| synonyms = Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Hyperammonemia]], [[encephalopathy]], [[seizures]], [[ataxia]], [[lethargy]] | |||
| onset = [[Neonatal]] or [[early childhood]] | |||
| duration = [[Chronic]] | |||
| causes = Mutations in the [[SLC25A15]] gene | |||
| risks = [[Genetic predisposition]] | |||
| diagnosis = [[Genetic testing]], [[ammonia]] levels, [[urine organic acids]] | |||
| differential = [[Urea cycle disorders]], [[ornithine transcarbamylase deficiency]] | |||
| treatment = [[Low-protein diet]], [[ammonia scavengers]], [[arginine]] supplementation | |||
| prognosis = Variable, depends on early diagnosis and management | |||
| frequency = Rare | |||
| deaths = Can be fatal if untreated | |||
}} | |||
[[File:autorecessive.svg|Autosomal Recessive Inheritance Pattern|thumb|left]] | |||
'''Ornithine translocase deficiency''' is a rare [[metabolic disorder]] characterized by an inability of the body to transport the [[amino acid]] [[ornithine]]. This condition is also known as '''Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome'''. It is a type of [[urea cycle disorder]], which affects the body's ability to get rid of [[ammonia]], a toxic byproduct of protein metabolism. | '''Ornithine translocase deficiency''' is a rare [[metabolic disorder]] characterized by an inability of the body to transport the [[amino acid]] [[ornithine]]. This condition is also known as '''Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome'''. It is a type of [[urea cycle disorder]], which affects the body's ability to get rid of [[ammonia]], a toxic byproduct of protein metabolism. | ||
==Symptoms== | ==Symptoms== | ||
The symptoms of Ornithine translocase deficiency can vary widely, ranging from mild to severe. They may include [[neurological]] problems, such as [[developmental delay]], [[intellectual disability]], and [[seizures]]; [[gastrointestinal]] issues, such as [[vomiting]], [[diarrhea]], and [[failure to thrive]]; and other symptoms, such as [[liver disease]] and [[hair loss]]. | The symptoms of Ornithine translocase deficiency can vary widely, ranging from mild to severe. They may include [[neurological]] problems, such as [[developmental delay]], [[intellectual disability]], and [[seizures]]; [[gastrointestinal]] issues, such as [[vomiting]], [[diarrhea]], and [[failure to thrive]]; and other symptoms, such as [[liver disease]] and [[hair loss]]. | ||
==Causes== | ==Causes== | ||
Ornithine translocase deficiency is caused by mutations in the [[SLC25A15]] gene. This gene provides instructions for making a protein that is found in the [[mitochondria]], the energy-producing centers of cells. The protein, called ornithine translocase, is responsible for transporting ornithine across the mitochondrial membrane. | Ornithine translocase deficiency is caused by mutations in the [[SLC25A15]] gene. This gene provides instructions for making a protein that is found in the [[mitochondria]], the energy-producing centers of cells. The protein, called ornithine translocase, is responsible for transporting ornithine across the mitochondrial membrane. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of Ornithine translocase deficiency is typically made through [[genetic testing]], which can identify mutations in the SLC25A15 gene. Other tests, such as [[blood tests]] and [[urine tests]], may also be used to measure levels of ammonia and other substances in the body. | Diagnosis of Ornithine translocase deficiency is typically made through [[genetic testing]], which can identify mutations in the SLC25A15 gene. Other tests, such as [[blood tests]] and [[urine tests]], may also be used to measure levels of ammonia and other substances in the body. | ||
==Treatment== | ==Treatment== | ||
Treatment for Ornithine translocase deficiency typically involves a low-protein diet to reduce the amount of ammonia produced by the body. Medications may also be used to help remove ammonia from the body. In severe cases, [[liver transplantation]] may be considered. | Treatment for Ornithine translocase deficiency typically involves a low-protein diet to reduce the amount of ammonia produced by the body. Medications may also be used to help remove ammonia from the body. In severe cases, [[liver transplantation]] may be considered. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with Ornithine translocase deficiency varies depending on the severity of the condition and the effectiveness of treatment. With early diagnosis and appropriate treatment, many individuals with this condition can lead relatively normal lives. | The prognosis for individuals with Ornithine translocase deficiency varies depending on the severity of the condition and the effectiveness of treatment. With early diagnosis and appropriate treatment, many individuals with this condition can lead relatively normal lives. | ||
==See also== | ==See also== | ||
* [[Urea cycle disorder]] | * [[Urea cycle disorder]] | ||
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* [[Ammonia]] | * [[Ammonia]] | ||
* [[SLC25A15]] | * [[SLC25A15]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Genetic diseases]] | [[Category:Genetic diseases]] | ||
| Line 29: | Line 42: | ||
{{Metabolic-pathology-stub}} | {{Metabolic-pathology-stub}} | ||
{{Genetics-stub}} | {{Genetics-stub}} | ||
Latest revision as of 05:36, 9 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
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| Ornithine translocase deficiency | |
|---|---|
| |
| Synonyms | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Hyperammonemia, encephalopathy, seizures, ataxia, lethargy |
| Complications | N/A |
| Onset | Neonatal or early childhood |
| Duration | Chronic |
| Types | N/A |
| Causes | Mutations in the SLC25A15 gene |
| Risks | Genetic predisposition |
| Diagnosis | Genetic testing, ammonia levels, urine organic acids |
| Differential diagnosis | Urea cycle disorders, ornithine transcarbamylase deficiency |
| Prevention | N/A |
| Treatment | Low-protein diet, ammonia scavengers, arginine supplementation |
| Medication | N/A |
| Prognosis | Variable, depends on early diagnosis and management |
| Frequency | Rare |
| Deaths | Can be fatal if untreated |
Ornithine translocase deficiency is a rare metabolic disorder characterized by an inability of the body to transport the amino acid ornithine. This condition is also known as Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome. It is a type of urea cycle disorder, which affects the body's ability to get rid of ammonia, a toxic byproduct of protein metabolism.
Symptoms[edit]
The symptoms of Ornithine translocase deficiency can vary widely, ranging from mild to severe. They may include neurological problems, such as developmental delay, intellectual disability, and seizures; gastrointestinal issues, such as vomiting, diarrhea, and failure to thrive; and other symptoms, such as liver disease and hair loss.
Causes[edit]
Ornithine translocase deficiency is caused by mutations in the SLC25A15 gene. This gene provides instructions for making a protein that is found in the mitochondria, the energy-producing centers of cells. The protein, called ornithine translocase, is responsible for transporting ornithine across the mitochondrial membrane.
Diagnosis[edit]
Diagnosis of Ornithine translocase deficiency is typically made through genetic testing, which can identify mutations in the SLC25A15 gene. Other tests, such as blood tests and urine tests, may also be used to measure levels of ammonia and other substances in the body.
Treatment[edit]
Treatment for Ornithine translocase deficiency typically involves a low-protein diet to reduce the amount of ammonia produced by the body. Medications may also be used to help remove ammonia from the body. In severe cases, liver transplantation may be considered.
Prognosis[edit]
The prognosis for individuals with Ornithine translocase deficiency varies depending on the severity of the condition and the effectiveness of treatment. With early diagnosis and appropriate treatment, many individuals with this condition can lead relatively normal lives.
See also[edit]
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