Hypermethioninemia With Deficiency Of S-adenosylhomocysteine Hydrolase
Disease Details
Family Health Simplified
- Description
- Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase is a rare genetic disorder characterized by elevated levels of methionine in the blood due to a deficiency of the enzyme S-adenosylhomocysteine hydrolase.
- Type
- Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase is a metabolic disorder. The genetic transmission is autosomal recessive.
- Signs And Symptoms
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Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase is a rare metabolic disorder. The primary signs and symptoms include:
- Elevated levels of methionine in the blood (hypermethioninemia)
- Developmental delays, especially in motor skills
- Seizures
- Neurological abnormalities
- Muscle weakness (hypotonia)
- Liver dysfunction
- Failure to thrive or poor growth
- Intellectual disability in more severe cases
Due to the deficiency of S-adenosylhomocysteine hydrolase, the body is unable to properly process methionine, leading to its accumulation and associated symptoms. Early diagnosis and management are important to address and mitigate the effects of the disorder. - Prognosis
- Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase is a rare metabolic disorder. The prognosis of this condition can vary widely depending on the individual case but often involves chronic and severe liver disease. Early diagnosis and management are critical. Clinical interventions focus on dietary restrictions of methionine and potentially other supportive treatments to manage symptoms and prevent complications. The long-term outlook largely depends on the effectiveness of these interventions and the degree of organ involvement.
- Onset
- Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase typically presents in infancy. Symptoms may include developmental delay, myopathy, and hepatomegaly.
- Prevalence
- The prevalence of hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (also known as AdoHcy hydrolase deficiency) is not well-documented but is considered very rare, with only a few reported cases in the medical literature. Due to its rarity, precise prevalence data are not available.
- Epidemiology
- Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (AHCY deficiency) is an extremely rare metabolic disorder. Due to its rarity, detailed epidemiological data is scarce. Only a few cases have been documented worldwide, making it difficult to estimate its true prevalence.
- Intractability
- Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase is generally considered intractable due to the lack of effective treatments specifically targeting the underlying enzyme deficiency. Management typically focuses on symptomatic treatment and dietary modifications to control methionine levels. Genetic and molecular therapies are still in experimental stages.
- Disease Severity
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Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase is a rare metabolic disorder. The severity of this disease can vary widely among affected individuals. In some cases, individuals may remain asymptomatic or experience mild symptoms, while in others, the condition can lead to more severe complications, including developmental delays, neurological issues, and liver problems.
For "nan," if you mean "not a number" or an unrelated term, it isn't relevant to the context of the disease's severity. If you intended "nan" to stand for something else, please provide more context for an accurate response. - Healthcare Professionals
- Disease Ontology ID - DOID:0111039
- Pathophysiology
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Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (SAHH) is a rare genetic disorder. Its pathophysiology involves mutations in the AHCY gene that encodes the enzyme S-adenosylhomocysteine hydrolase. This enzyme is crucial for the metabolism of methionine, an essential amino acid.
When SAHH is deficient or dysfunctional, S-adenosylhomocysteine accumulates, which inhibits methyltransferases, enzymes involved in vital methylation reactions. This inhibition disrupts crucial biochemical processes, leading to elevated levels of methionine in the blood (hypermethioninemia).
The disruption in methylation can affect various cellular processes, and the accumulation of methionine and its metabolites can be toxic, potentially leading to neurological and liver dysfunction, developmental delays, and other systemic symptoms. - Carrier Status
- Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase is inherited in an autosomal recessive manner. Carrier status refers to individuals who have one mutated copy of the relevant gene and one normal copy. Carriers typically do not exhibit symptoms of the disorder.
- Mechanism
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Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (AdoHcy hydrolase) involves a disruption in the methionine metabolism pathway. Here are the key mechanisms:
### Mechanism:
In normal metabolism, methionine is converted to S-adenosylmethionine (SAM), which then donates a methyl group and becomes S-adenosylhomocysteine (SAH). SAH is subsequently hydrolyzed by S-adenosylhomocysteine hydrolase into homocysteine and adenosine. This process ensures the proper regulation of methylation reactions in the body.
### Molecular Mechanisms:
1. **Deficiency of AdoHcy Hydrolase**: This enzyme deficiency hampers the conversion of SAH to homocysteine and adenosine.
2. **Accumulation of SAH**: Elevated levels of SAH act as a potent inhibitor of SAM-dependent methyltransferase reactions, leading to global hypomethylation.
3. **Elevated Methionine Levels**: The blockage in the conversion causes an accumulation of methionine and SAH in the blood and tissues.
4. **Impaired Methylation**: As methylation is critical for various biological processes, including DNA and protein methylation, its impairment can lead to widespread physiological and developmental issues.
This metabolic disruption is typically inherited in an autosomal recessive pattern and can lead to a range of symptoms, including developmental delay and liver abnormalities. - Treatment
- Treatment for hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase generally focuses on dietary management to reduce methionine intake. This may involve a low-methionine diet and the use of specialized medical foods. Additionally, avoiding foods rich in methionine, such as meat, fish, and certain dairy products, can help manage methionine levels. Close monitoring by a healthcare professional, including regular laboratory assessments, is essential to ensure proper nutritional balance and to adjust dietary plans as needed.
- Compassionate Use Treatment
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Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase is a rare metabolic disorder. Due to its rarity, information on compassionate use and experimental treatments may be limited. However, some potential approaches could include:
1. **Dietary Protein Restriction**: Reducing dietary methionine intake can help manage symptoms by limiting the substrate that accumulates.
2. **Betaine Supplementation**: Betaine has been used in some metabolic disorders to help lower homocysteine levels, although its efficacy for this specific condition may be uncertain.
3. **Liver Transplant**: For severe cases, liver transplantation has been considered as it can correct the metabolic defect by providing a new source of the deficient enzyme.
4. **Experimental Enzyme Replacement Therapy**: Research may be ongoing into therapies that replace the deficient enzyme (S-adenosylhomocysteine hydrolase) directly, though this is likely in early stages.
For precise and individualized advice, consultation with a metabolic specialist or genetic counselor is essential. - Lifestyle Recommendations
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Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase is a rare metabolic disorder. While specific lifestyle recommendations can vary based on the individual's health status, here are some general guidelines:
1. **Dietary Management**:
- Follow a low-methionine diet under the guidance of a nutritionist to manage methionine levels.
- Ensure adequate intake of other essential nutrients.
2. **Regular Monitoring**:
- Regular blood tests to monitor methionine and homocysteine levels.
- Frequent check-ups with a metabolic specialist.
3. **Medications and Supplements**:
- Take prescribed medications or supplements as directed by a healthcare professional to manage symptoms and prevent complications.
4. **Avoid Triggers**:
- Avoid foods and substances that could exacerbate the condition, often identified through personal or clinical experience.
5. **Maintain Healthy Lifestyle**:
- Regular exercise as tolerated and recommended by healthcare providers.
- Adequate hydration and sleep.
6. **Education and Support**:
- Stay informed about the condition and closely follow medical advice.
- Join support groups for families dealing with similar metabolic disorders for emotional and practical support.
Consulting with healthcare providers specializing in metabolic disorders is crucial for personalized care. - Medication
- For hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, there is no specific medication universally acknowledged for treatment. Management of this condition often involves dietary restrictions to regulate methionine levels and supportive care. Consulting a specialist for personalized treatment plans is essential.
- Repurposable Drugs
- Currently, there are no well-established repurposable drugs directly approved for the treatment of hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase. Management of this condition typically involves dietary regulation to control methionine levels. However, research into repurposable drugs and novel therapies is ongoing. It is important to consult healthcare providers for the most current and personalized treatment options.
- Metabolites
- Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase typically involves elevated levels of methionine and S-adenosylhomocysteine (SAH) in the blood. Other associated metabolic imbalances may include alterations in homocysteine and adenosine levels. These metabolites are reflective of disruptions in the methionine cycle due to the enzyme deficiency.
- Nutraceuticals
- For hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, there is no established nutraceutical intervention mentioned in the scientific literature to specifically address this condition. This rare metabolic disorder often requires medical management and dietary restrictions rather than nutraceuticals. Consulting a healthcare professional or metabolic specialist is essential for appropriate treatment and management.
- Peptides
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Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (AdoHcy) is a rare genetic disorder. It is mainly characterized by elevated levels of methionine and S-adenosylhomocysteine (AdoHcy) in the blood. This condition results from mutations in the AHCY gene, which encodes the enzyme S-adenosylhomocysteine hydrolase. The deficiency of this enzyme disrupts normal methionine metabolism, leading to symptoms that can range from mild to severe neurological issues.
Peptides are not directly involved in the primary pathology of hypermethioninemia with AdoHcy hydrolase deficiency. The disorder centers around amino acid metabolism rather than peptide function.
"Nan" could be an abbreviation, but its meaning is unclear in the context provided. If you are referring to nanoscale materials or nanoparticles, they are not typically related to the diagnosis or treatment of hypermethioninemia with AdoHcy hydrolase deficiency. Current treatment strategies focus on dietary management to control methionine levels and other supportive therapies aimed at managing symptoms.