Hyperlysinemia, Type 1 (AASS)

Hyperlysinemia, Type 1 (AASS) is a genetic disorder that is inherited in an autosomal recessive pattern. This means that both parents have to be carriers of the condition to have an affected child. Carriers of Hyperlysinemia, Type 1 (AASS) usually do not show symptoms. If you have Hyperlysinemia, Type 1 (AASS), this means that both your parents are carriers for the condition, and each of your siblings have a 25% chance of having the condition and a 50% chance of being a carrier. If your child has Hyperlysinemia, Type 1 (AASS), this means you are your reproductive partner are likely carriers. You should inform your siblings who are of reproductive age, as they also may be carriers.

Genetic counselors are useful resources to determine reproductive risk and carrier status for Hyperlysinemia, Type 1 (AASS). During a genetic counseling session, the genetic counselor will construct a family tree (pedigree) to determine who in the family is at risk to be a carrier or affected by Hyperlysinemia, Type 1 (AASS). Click here to find a genetic counselor near you.

Hyperlysinemia, Type 1 (AASS) is a rare genetic disorder, making it difficult to find support groups for individuals and families affected by the condition. The National Organization for Rare Disorders (NORD) is a great resource to find more information on groups and centers associated with Hyperlysinemia, Type 1 (AASS).

To find support groups for Hyperlysinemia, Type 1 (AASS) click here.

Other resources that may be useful to find other people with Hyperlysinemia, Type 1 (AASS) is a rare genetic disorder, making it difficult to find support groups for individuals and families affected by the condition. The National Organization for Rare Disorders (NORD) is a great resource to find more information on groups and centers associated with Hyperlysinemia, Type 1 (AASS).

To find support groups for Hyperlysinemia, Type 1 (AASS) click here.

Depending on the symptoms that your or your child has associated with Hyperlysinemia, Type 1 (AASS) are social media outlets, such as [link url="Facebook” target=”_blank”>https://www.facebook.com/ or [link url="Instagram” target=”_blank”>https://www.instagram.com/.

Hyperlysinemia, Type 1 (AASS) is a genetic condition that sometime may involve speech and language delay in affected individuals. Speech therapy may be helpful to increase a patient communication and language skills. To find a speech therapist near you click here.

Hyperlysinemia, Type 1 (AASS) is a genetic condition that is caused by excess lysine in the body. In some cases, a low lysine diet can alleviate symptoms associated with the condition. Nutritionists may be helpful in developing a specialized low lysine diet along with your doctor. To find a nutritionist near you click here.

Hyperlysinemia, Type 1 (AASS) is a genetic condition that can cause a variable amount of neurological and behavioral symptoms. Though, 50% of people with Hyperlysinemia, Type 1 (AASS) do not experience any symptoms and usually are unaware that they have the condition. So, people with Hyperlysinemia, Type 1 (AASS) on average have a normal lifespan and are not expected to die early from the condition. Although, some individuals may have more severe symptoms and may have a shortened lifespan depending on their severity. Patients should speak with their doctor concerning their medical concerns associated with Hyperlysinemia, Type 1 (AASS).

Hyperlysinemia, Type 1 (AASS) is a variable genetic condition that may be associated with a variety of symptoms, including Seizures (non specific), low muscle tone (hypotonia), delayed psychomotor development, intellectual disability (rarely) and behavioral problems (rarely). Although, 50% of people with Hyperlysinemia, Type 1 (AASS) never experience symptoms of the condition and are usually unaware that they have it. For these reasons, referrals to specialist doctors should depend on the type of symptoms the patient is experiencing. In general, patients with Hyperlysinemia, Type 1 (AASS) may want to see:

Centogene AG – the Rare Disease Company

For more information click [link url="here” target=”_blank”>https://www.ncbi.nlm.nih.gov/gtr/tests/530515/laboratory/

Hyperlysinemia, Type 1 (AASS), is a metabolic genetic condition that is caused by excess lysine in the blood. Lysine is an essential amino acid (building blocks of proteins), which means the body does not make lysine naturally and it must be obtained through our diets. Hyperlysinemia, Type 1 (AASS), is caused by a deficiency of the enzyme that normally breaks down lysine in the body, which causes an excess amount of lysine in the blood. Earlier studies associated hyperlysinemia, type 1 (AASS) with severe intellectual disability, but this is no longer believed after further cases have been reported having normal intelligence. Most commonly, individuals with hyperlysinemia, Type 1 (AASS) do not have symptoms, and are usually unaware they have the condition.

Common symptoms that have been associated with increased lysine:

There are several names that are used to describe Hyperlysinemia, Type 1 (AASS). Most often, medical professionals will simply call the condition Hyperlysinemia. Other names associated with Hyperlysinemia, Type 1 (AASS) include:

Hyperlysinemia, Type 1 (AASS) is a genetic condition that may cause a variable amount of neurological and behavioral symptoms. Although, about 50% of people who are found to have a genetic mutation associated with Hyperlysinemia, Type 1 (AASS) do not have symptoms and are usually unaware they have the condition. Regardless, if you suspect you may have Hyperlysinemia, Type 1 (AASS), you should watch out for certain symptoms. Individuals with Hyperlysinemia, Type 1 (AASS) usually begin displaying symptoms in infancy, and may include non-specific seizures, vomiting, troubles with eating, delayed motor skills, low muscle tone, delayed speech and reaching other milestones such as sitting up and standing.

With age, people with Hyperlysinemia, Type 1 (AASS) may still experience seizures and delayed speech and motor skills. Also, they may show decreased attention span and symptoms similar to ADHD. Some affected individuals may experience issues with the eyes, dislocation of the lens, anemia and sometimes non-specific gastrointestinal issues. Again, Hyperlysinemia, Type 1 (AASS) is described as a condition with extreme variability, meaning affected individuals will have varying symptoms at different times of their lives.

If you are concerned you may have signs of Hyperlysinemia, Type 1 (AASS), you should contact your doctor or a medical geneticist. Also, for more information on your risk Hyperlysinemia, Type 1 (AASS) for Click here to find a genetic counselor near you.

Hyperlysinemia, Type 1 (AASS) has been considered to be a benign genetic difference, and most people do not show any symptoms of the condition. For those individuals who have experienced symptoms of hyperlysinemia, type 1 (AASS), they may include:

Hyperlysinemia, Type 1 (AASS) is a genetic condition caused by changes or mutations in the AASS gene. This gene provides instructions to make the enzyme responsible for breaking down lysine in the body. The enzyme is called aminoadipic semialdehyde synthase. Changes in the AASS gene cause a deficiency in this enzyme, and result in increased amounts of lysine in the blood and cerebral spinal fluid.

One step of lysine breakdown first converts lysine to saccharopine, which is further broken down to alpha-aminoadipate semialdehyde. As a result, saccharophine may also build up in the blood and urine, and may be referred to as a clinical variant of hyperlysinemia, type 1 (AASS), called saccharopinuria.

Hyperlysinemia, Type 1 (AASS) is a genetic condition that is caused by genetic mutations in the AASS gene. Although, not all genetic mutations in the AASS gene cause Hyperlysinemia, Type 1 (AASS). Genetic testing is used to reveal if there is a genetic change in a specific gene. In the case of Hyperlysinemia, Type 1 (AASS), sometimes there are genetic changes in the AASS gene that are not disease causing or changes that are classified as variants of uncertain significance (VUS). These are genetic changes that have not been documented in the population enough to yet know whether they are harmful or benign. For more information on what a variant of uncertain significance is, click here

It is important to discuss these results with a genetic counselor in order to know the status of a Hyperlysinemia, Type 1 (AASS) related genetic mutation. Click here to find a genetic counselor near you.

Hyperlysinemia, Type 1 (AASS) is a genetic condition that involves neurological and behavioral symptoms. It is important to note Hyperlysinemia, Type 1 (AASS) is a variable disorder, meaning affected individuals may not develop the same symptoms. Onset of the symptoms usually begins in infancy, but about 50% of people with Hyperlysinemia, Type 1 (AASS) will not have symptoms. This is why Hyperlysinemia, Type 1 (AASS) can sometimes be considered a benign condition. For those who are affected by the condition, there are a variety of different symptoms that may present.

Hyperlysinemia, Type 1 (AASS) is a genetic condition that may be associated with varying neurological and behavioral symptoms. Although, 50% of affected individuals will not have any symptoms and usually unaware that they have Hyperlysinemia, Type 1 (AASS). Upon diagnosis, you should talk with your doctor, geneticist or genetic counselor concerning next steps. Depending on if you or your child have symptoms, they may recommend a low lysine diet in order to combat the excess lysine buildup in the body. Though, have of patients never experience symptoms of Hyperlysinemia, Type 1 (AASS) and may not require any further treatment or diet restrictions.

If you have more questions concerning the first steps after a Hyperlysinemia, Type 1 (AASS) diagnosis, you should contact your doctor, or contact a genetic counselor. Click here to find a genetic counselor near you.

Hyperlysinemia, Type 1 (AASS) is a genetic condition that may be associated with varying neurological and behavioral symptoms. Although, 50% of affected individuals will not have any symptoms and usually unaware that they have Hyperlysinemia, Type 1 (AASS). For this reason, Hyperlysinemia, Type 1 (AASS) has been categorized as a benign variant. Depending on if you or your child have symptoms, a low lysine diet may be recommended in order to combat the excess lysine buildup in the body. Though, this treatment has not been effective in all cases, and may have no benefit to the affected individual. Also, have of patients never experience symptoms of Hyperlysinemia, Type 1 (AASS) and may not require any further treatment or diet restrictions. It is important to discuss recommended and possible treatment for Hyperlysinemia, Type 1 (AASS) with your doctor.

A number of people with Hyperlysinemia, Type 1 (AASS) may experience low muscle tone or speech delay. These symptoms may require the use of physical or speech therapies. Seizures may also be a symptom associated with Hyperlysinemia, Type 1 (AASS), and depending on the severity may require anticonvulsant medication. Other behavioral issues and intellectual disabilities may occur in patients with Hyperlysinemia, Type 1 (AASS), and may require special education or focussed courses and counseling to improve attention span.

Centers and hospitals that specialize in metabolic conditions may be able to offer specialized treatment plans depending on the patient’s presentation. Normally, these centers utilize medical geneticists, genetic counselors, nurses and other specialist in patient care. If you have more questions concerning the first steps after a Hyperlysinemia, Type 1 (AASS) diagnosis, you should contact your doctor, or contact a genetic counselor. Click here to find a genetic counselor near you.

Hyperlysinemia, Type 1 (AASS) is a metabolic genetic condition that can cause neurological and behavioral symptoms. When babies in the United States are born, they receive a heel prick blood test that checks for various genetic conditions and diseases. Hyperlysinemia, Type 1 (AASS) is usually not included on newborn testing in the United States, as 50% of affected individuals do not have symptoms.

If you are concerned your newborn may be suffering from Hyperlysinemia, Type 1 (AASS), it is recommended you talk with your child’s pediatrician about further testing and work up for the condition. To see if your state tests for Hyperlysinemia, Type 1 (AASS) on newborn screening, click here.

Hyperlysinemia, Type 1 (AASS) is a metabolic genetic condition that is caused by excess lysine in the body. It is caused by a genetic difference in the AASS gene, which is responsible for making the enzyme that breaks down lysine in the body. To see if a person has Hyperlysinemia, Type 1 (AASS) there are two different types of testing that can be done, genetic testing to see if there is a genetic change in the AASS gene or biochemical testing to see if there is an increase of lysine in the blood. Usually, biochemical testing may be the first step in diagnosis, and if lysine is found to be high, confirmatory testing of the AASS gene may be used.

Both genetic testing and biochemical testing involve a blood draw. They usually can be ordered after evaluation by a primary care doctor, medical geneticist or genetic counselor. If there is a suspicion for the disease, a person’s blood will be drawn and sent for testing. For genetic testing, DNA will be extracted from the blood for analysis, and sometimes saliva samples or cheek swabs can be used to gather DNA, depending on the lab that is being used. For biochemical testing, a blood draw is used to determine if lysine levels are elevated similarly to levels found in Hyperlysinemia, Type 1 (AASS).

For people who wish to have testing for Hyperlysinemia, Type 1 (AASS), they should contact their doctor, or they can contact a genetic counselor. Click here to find a genetic counselor near you.

As of January 11, 2019, we are not aware of any clinical trials associated with Hyperlysinemia, Type 1 (AASS). To stay up to date with clinical trials associated with Hyperlysinemia, Type 1 (AASS) click here.

For more information on expert centers that specialize in care for Hyperlysinemia, Type 1 (AASS) click here.

For more information of research projects relating to Hyperlysinemia, Type 1 (AASS) click here.

For more information on how to find a network associated with Hyperlysinemia, Type 1 (AASS) click here.

Hyperlysinemia, Type 1 (AASS) is a genetic condition that may present with a variety of symptoms. In Hyperlysinemia, Type 1 (AASS), a person has to be a carrier of two non-functioning genes to have the condition, which is also described as autosomal recessive inheritance. This means that both parents have to be carriers of the genetic mutation associated with Hyperlysinemia, Type 1 (AASS) to have an affected child. So, it may appear that the condition simply "pops up" in families rather than being passed on from generation to generation. When both parents are carriers of Hyperlysinemia, Type 1 (AASS) there is a 25% chance of having an affected child, 50% chance of having a child that is a carrier and 25% chance of having a child that is not a carrier/not affected.

Therefore, it is recommended that patients with Hyperlysinemia, Type 1 (AASS) have their reproductive partner pursue carrier screening to see if they are also carriers for Hyperlysinemia, Type 1 (AASS). If they are, there is a 25% risk of having a child with Hyperlysinemia, Type 1 (AASS) and a 50% risk of having a child who is also a carrier.

For more information on Hyperlysinemia, Type 1 (AASS), and to discover your carrier and recurrence risk for the condition, click here to find a genetic counselor near you.

Hyperlysinemia, Type 1 (AASS) is considered a metabolic genetic condition. Metabolic genetic conditions are caused by genetic changes which interfere with the body’s normal metabolism. Metabolism involves the breakdown of certain bodily chemicals through the work of enzymes. These conditions are usually inherited from both parents, through autosomal recessive inheritance. Sometimes, these type of conditions may be referred to as "inborn errors of metabolism." Click here to learn more about metabolic genetic disorders.

Hyperlysinemia, Type 1 (AASS) is a genetic condition that may be associated with different neurological and behavioral symptoms. Although some people may present with symptoms of this condition, 50% of people will show no symptoms and may never know they have Hyperlysinemia, Type 1 (AASS). This is why Hyperlysinemia, Type 1 (AASS) has been described as a benign difference in some individuals. For more information on symptoms that may be involved with Hyperlysinemia, Type 1 (AASS) click here to find a genetic counselor near you.

If you have hyperlysinemia, type 1 (AASS), all your children will be carriers for the disorder because you will pass the disease-causing gene to each of your children. Carriers of the disorder will not have signs and symptoms of the condition.

Hyperlysinemia, Type 1 (AASS) is a genetic condition that can be passed down in families. In each one of our cells of our body, we normally have 46 chromosomes, 23 from our mom and 23 from our dad. These chromosomes are made up of genes, which act as the blue prints to make proteins. Proteins work to make sure our bodies function correctly, so when there is a genetic change in one of our genes, it can cause issues in the way our bodies function. In the case of Hyperlysinemia, Type 1, both copies of the AASS gene have mutations which cause problems with protein production.

In Hyperlysinemia, Type 1 (AASS), a person has to be a carrier of two non-functioning genes to have the condition, which is also described as autosomal recessive inheritance. This means that both parents have to be carriers of the genetic variant or mutation associated with Hyperlysinemia, Type 1 (AASS) to have an affected child. So, it may appear that the condition simply "pops up" in families rather than being passed on from generation to generation. When both parents are carriers of Hyperlysinemia, Type 1 (AASS) there is a 25% chance of having an affected child, 50% chance of having a child that is a carrier and 25% chance of having a child that is not a carrier/not affected.

For more information on Hyperlysinemia, Type 1 (AASS), and to discover your carrier and recurrence risk for the condition, click here to find a genetic counselor near you.

Hyperlysinemia, Type 1 (AASS) is a genetic condition that can be passed down in families. In each one of our cells of our body, we normally have 46 chromosomes, 23 from our mom and 23 from our dad. These chromosomes are made up of genes, which act as the blue prints to make proteins. Proteins work to make sure our bodies function correctly, so when there is a genetic change in one of our genes, it can cause issues in the way our bodies function. In the case of Hyperlysinemia, Type 1, both copies of the AASS gene have mutations which cause problems with protein production.

In Hyperlysinemia, Type 1 (AASS), a person has to be a carrier of two non-functioning genes to have the condition, which is also described as autosomal recessive inheritance. This means that both parents have to be carriers of the genetic mutation associated with Hyperlysinemia, Type 1 (AASS) to have an affected child. So, it may appear that the condition simply "pops up" in families rather than being passed on from generation to generation. When both parents are carriers of Hyperlysinemia, Type 1 (AASS) there is a 25% chance of having an affected child, 50% chance of having a child that is a carrier and 25% chance of having a child that is not a carrier/not affected.

For more information on Hyperlysinemia, Type 1 (AASS), and to discover your carrier and recurrence risk for the condition, click here to find a genetic counselor near you.

In patients with hyperlysinemia type 1 (AASS), seizures will stop on their own, but when they are prolonged they may require medical attention. If you or your child has a seizure, you should follow these steps provided by the Mayo Clinic

Hyperlysinemia, Type 1 (AASS) is a genetic condition that may present with low muscle tone, or sometimes referred to as hypotonia. Low muscle tone may improve with the use of occupational and physical therapy depending on the severity. Affected patients and parents of children with Hyperlysinemia, Type 1 (AASS) should discuss these therapies with their doctor beforehand. To find a physical therapist near you click here.

Patients with hyperlysinemia type 1 (AASS) may experience lens dislocation, or sometimes called ectopia lentis, occurs when the lens of the eye fully or partially dislocates. Depending on the severity, this may require surgery from a vitreoretinal surgeon. If the lens dislocation is not concerning, surgeons may recommend observation to see if it gets worse with time.

There are various organizations that you can donate to to support Hyperlysinemia, Type 1 (AASS) research, including foundations, support groups, academic centers of excellence and overall groups such as NORD. You can click here to find charitable organizations to donate to.

Hyperlysinemia, Type 1 (AASS) is a metabolic genetic condition that is caused by excess lysine in the body. It is caused by a genetic difference in the AASS gene, which is responsible for making the enzyme that breaks down lysine in the body. To see if a person has Hyperlysinemia, Type 1 (AASS) there are two different types of testing that can be done, genetic testing to see if there is a genetic change in the AASS gene or biochemical testing to see if there is an increase of lysine in the blood. Usually, biochemical testing may be the first step in diagnosis, and if lysine is found to be high, confirmatory testing of the AASS gene may be used.

Both genetic testing and biochemical testing involve a blood draw. They usually can be ordered after evaluation by a primary care doctor, medical geneticist or genetic counselor. If there is a suspicion for the disease, a person’s blood will be drawn and sent for testing. For genetic testing, DNA will be extracted from the blood for analysis, and sometimes saliva samples or cheek swabs can be used to gather DNA, depending on the lab that is being used. For biochemical testing, a blood draw is used to determine if lysine levels are elevated similarly to levels found in Hyperlysinemia, Type 1 (AASS).

For people who wish to have testing for Hyperlysinemia, Type 1 (AASS), they should contact their doctor, or they can contact a genetic counselor. Click here to find a genetic counselor near you.

Hyperlysinemia, Type 1 (AASS) is a genetic condition that sometime may involve psychomotor delay in affected individuals. Physical therapy may be helpful to help a child reach motor milestones such as sitting, standing and walking. It may also help with general movement abilities later in life. To find a physical therapist near you click here.

As of January 11, 2019, we are not aware of any clinical trials associated with Hyperlysinemia, Type 1 (AASS). To stay up to date with clinical trials associated with Hyperlysinemia, Type 1 (AASS) click here.

If you’re interested in being a part of a clinical research trial, it is important that you talk to your doctor and family or friends to determine if it’s right for you. For more information about individual studies, you or your doctor can usually contact the research team listed on a particular studies page.

For more information on expert centers that specialize in care for Hyperlysinemia, Type 1 (AASS) click here.

For more information of research projects relating to Hyperlysinemia, Type 1 (AASS) click here.

For more information on how to find a network associated with Hyperlysinemia, Type 1 (AASS) click here.

Hyperlysinemia, Type 1 (AASS) is a rare genetic condition, and it may be difficult to find centers of excellence that specialize in care for this condition. Some centers of excellence can be found online, and other times, support groups for Hyperlysinemia, Type 1 (AASS) may be a helpful resource to find specialized centers. Also, researchers performing studies on Hyperlysinemia, Type 1 (AASS) may know of center of excellence for care. Patients should speak with their doctors about specialized centers in their area.

For more information on expert centers that specialize in care for Hyperlysinemia, Type 1 (AASS) click here.

For more information on how to find a network associated with Hyperlysinemia, Type 1 (AASS) click here.

Hyperlysinemia, Type 1 (AASS) is a genetic condition that sometimes involves intellectual disability. In some cases, special educational classes may be helpful to assist children with Hyperlysinemia, Type 1 (AASS) in school and at home. To find out more about special education classes click [link url="here” target=”_blank”>https://kidshealth.org/en/parents/special-ed-support.html.

Currently, the prevalence of hyperlysinemia, Type 1 (AASS) is unknown. Hyperlysinemia, Type 1 (AASS) is considered a rare genetic condition. Although, due to the variable presentation, many affected individuals may not be aware they have hyperlysinemia, Type 1 (AASS), which makes the incidence of the condition hard to predict.

Hyperlysinemia, Type 1 (AASS) is caused by a deficiency of the enzyme that breaks down lysine in the body, so there is an accumulation of lysine in the blood, cerebral spinal fluid and urine. People withyyperlysinemia, type 1 (AASS) who present with symptoms related to the condition should talk to their doctors about a low lysine diet. This will decrease the amount of lysine in the body and may help with related symptoms.

Some foods that are high in lysine include:

Hyperlysinemia, Type 1 (AASS) is a genetic condition that is inherited in an autosomal recessive pattern. This means that an affected individual inherited one mutated copy from their mother and one mutated copy from their father. So, affected individuals will usually have two gene mutations associated with Hyperlysinemia, Type 1 (AASS), and will most likely have positive results through genetic testing.

Hyperlysinemia, Type 1 (AASS) is a genetic condition that may be associated with varying neurological and behavioral symptoms. Although, 50% of affected individuals will not have any symptoms and usually unaware that they have Hyperlysinemia, Type 1 (AASS). It is caused from excess lysine in the body due to a genetic mutation that interferes with the breakdown of lysine.

Depending on if you or your child have symptoms, a low lysine diet may be recommended in order to combat the excess lysine buildup in the body. Though, this treatment has not been effective in all cases, and may have no benefit to the affected individual. Also, have of patients never experience symptoms of Hyperlysinemia, Type 1 (AASS) and may not require any further treatment or diet restrictions. It is important to discuss recommended and possible treatment for Hyperlysinemia, Type 1 (AASS) with your doctor.

Hyperlysinemia, Type 1 (AASS) is a rare genetic disorder, making it difficult to find support groups for individuals and families affected by the condition. The National Organization for Rare Disorders (NORD) is a great resource to find more information on groups and centers associated with Hyperlysinemia, Type 1 (AASS).

To find support groups for Hyperlysinemia, Type 1 (AASS) click here.

Depending on the symptoms that your or your child has associated with Hyperlysinemia, Type 1 (AASS), there may be specialized support groups. For example, The ARC is a great resource for those with intellectual disabilities.

Hyperlysinemia, Type 1 (AASS) is a genetic condition that is caused by an excess amount of lysine in the body. There is also another type of hyperlysinemia, called hyperlysinemia Type 2 or also known as Saccharopinuria. In hyperlysinemias, a genetic mutation in the AASS gene causes a deficiency of two enzymes, lysine alpha-ketoglutarate reductase and saccharopine dehydrogenase. In hyperlysinemia Type 1 there is a deficiency in both of these enzymes, but in hyperlysinemia Type 2 there is only a deficiency of the saccaropine dehydrogenase. This causes an increased amount of saccharopine in the body, compared to hyperlysinemia Type 1 which causes an increase of serum lysine and saccharopine.

No specific clinical differences have been reported between types 1 and 2, and both of the conditions may include variable neurological and behavioral symptoms. Therefore, clinical outcomes and life expectancies are similar for Hyperlysinemia Type 1 and Hyperlysinemia Type 2. As stated earlier, Hyperlysinemia Type 2 does not cause an increased amount of serum lysine, so a decreased lysine diet would not be used as treatment, unlike in Hyperlysinemia Type 1.

Hyperlysinemia, Type 1 (AASS) is a metabolic condition that may present with a variable amount of symptoms, including intellectual disability, low muscle tone, behavioral issues, seizures, eye issues, and other neurological and behavioral problems. Although, about half of people with Hyperlysinemia, Type 1 (AASS) show no symptoms of the condition and are usually unaware they have the condition. Although these symptoms are featured in Hyperlysinemia, Type 1 (AASS), they are not exclusively related to this condition. Hyperlysinemia, Type 2 also presents with the same symptoms and it is often difficult to decipher between the two. Genetic testing may be required to make a diagnosis between Hyperlysinemia, Type 1 and 2. Also, many other metabolic genetic conditions and other diseases that present with similar symptoms, such as low muscle tone, intellectual disability and seizures. So, it is important to consult your doctor or geneticist if these symptoms occur.

To see other genetic conditions that are associated with similar symptoms of Hyperlysinemia Type 1, click here to find a genetic counselor near you.