Scheie Syndrome: Causes, Symptoms and Care

Scheie syndrome, a rare genetic disorder, affects the body's ability to break down complex sugars. This condition is caused by a specific gene mutation that leads to the deficiency of an enzyme required for sugar metabolism. As a result, certain sugars accumulate in the body, causing various health issues.

Understanding the genetic basis of Scheie syndrome is crucial for proper diagnosis and management. By studying the underlying genetic factors, healthcare providers can offer personalized care and support to individuals with this condition.

As research continues to advance, new insights into the causes and mechanisms of Scheie syndrome may pave the way for innovative treatments and interventions. If you suspect you or a loved one may have Scheie syndrome, consulting with a genetic counselor or healthcare provider is essential for accurate assessment

What Are the Symptoms of Scheie Syndrome

Individuals with Scheie syndrome may experience symptoms such as joint stiffness, heart valve abnormalities, corneal clouding, and short stature. Other common signs include skeletal abnormalities, hernias, and enlarged liver and spleen.

Patients may also develop hearing loss and experience vision problems due to clouding of the cornea. While symptoms can vary in severity, early diagnosis and management by healthcare professionals can help improve the quality of life for individuals with Scheie syndrome.

Patients with Scheie syndrome may experience joint stiffness and pain, limiting mobility and impacting daily activities.
Visual impairment, such as clouded corneas or glaucoma, can occur in individuals with Scheie syndrome.
Enlarged liver and spleen are common symptoms of Scheie syndrome due to the accumulation of certain substances in these organs.
Individuals with Scheie syndrome may have heart valve abnormalities, leading to issues with blood flow and potential complications.
Growth retardation or short stature may be observed in children with Scheie syndrome, affecting their overall development.

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Causes of Scheie Syndrome

This enzyme plays a crucial role in breaking down complex sugars in the body. When the gene is faulty, the enzyme's function is impaired, leading to the accumulation of these sugars in various tissues and organs.

This buildup results in the characteristic symptoms of Scheie syndrome, such as skeletal abnormalities, heart valve issues, and other systemic complications. The condition is inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene for a child to develop the syndrome.

Scheie syndrome can be caused by a deficiency in the enzyme alpha-L-iduronidase, leading to the accumulation of certain complex sugars.
Genetic mutations in the IDUA gene, responsible for producing alpha-L-iduronidase, can result in Scheie syndrome.
Inheritance of the mutated IDUA gene in an autosomal recessive pattern from both parents can lead to the development of Scheie syndrome.
Certain rare genetic variations can disrupt the normal functioning of lysosomes, contributing to the pathogenesis of Scheie syndrome.
Environmental factors or unknown genetic factors may also play a role in the development of Scheie syndrome.

Types of Scheie Syndrome

Hurler-Scheie syndrome is the milder form, characterized by a later onset of symptoms and slower disease progression compared to the severe Hurler syndrome. Patients with Scheie syndrome typically exhibit skeletal abnormalities, heart valve abnormalities, corneal clouding, and joint stiffness.

Treatment options focus on managing symptoms and improving quality of life through enzyme replacement therapy, physical therapy, and supportive care. Early diagnosis and intervention are crucial in optimizing outcomes for individuals with Scheie syndrome.

Scheie syndrome, also known as MPS I-S, is a rare genetic disorder.
The types of Scheie syndrome are classified under the broader spectrum of mucopolysaccharidosis (MPS) disorders.
Scheie syndrome is characterized by deficiencies in the enzyme alpha-L-iduronidase.
Individuals with Scheie syndrome typically have milder symptoms compared to other MPS types.
Common features of Scheie syndrome include skeletal abnormalities, joint stiffness, and heart valve abnormalities.
There are three types of MPS I disorders, with Scheie syndrome representing the mildest form.
Diagnosis of Scheie syndrome involves genetic testing and enzyme activity assays.
Treatment for Scheie syndrome focuses on symptom management and supportive care.

Risk Factors

This condition is inherited in an autosomal recessive pattern, meaning that both parents must pass on a copy of the defective gene for the child to develop the syndrome. As with many genetic disorders, having a family history of Scheie syndrome increases the risk of an individual being affected. Genetic counseling and testing can help identify carriers and assess the likelihood of passing on the condition to future generations.

Family history of Scheie syndrome increases the risk of inheriting the condition.
Individuals with a mutation in the IDUA gene are at higher risk of developing Scheie syndrome.
Being of Ashkenazi Jewish descent is a risk factor for Scheie syndrome.
Consanguinity or intermarriage within families can elevate the risk of Scheie syndrome.
Advanced paternal age at the time of conception may be associated with a higher risk of Scheie syndrome development.

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Diagnosis of Scheie Syndrome

Genetic testing plays a crucial role in confirming the presence of mutations associated with the syndrome. Additionally, biochemical tests, such as enzyme assays and urine tests, can help identify specific enzyme deficiencies characteristic of Scheie syndrome.

Imaging studies, like X-rays or MRIs, may be used to assess skeletal abnormalities often seen in individuals with this condition. Collaborating with geneticists, pediatricians, and other specialists is key to accurately diagnosing Scheie syndrome and developing a tailored treatment plan.

Diagnosis of Scheie syndrome typically involves genetic testing to identify mutations in the IDUA gene.
Physical examination may reveal characteristic features like corneal clouding and joint stiffness.
Blood and urine tests can show elevated levels of glycosaminoglycans, supporting the diagnosis.
Imaging studies such as X-rays may demonstrate skeletal abnormalities associated with Scheie syndrome.

Treatment for Scheie Syndrome

Treatment options for Scheie syndrome typically focus on symptom management and improving quality of life. Enzyme replacement therapy is a common approach that can help alleviate some symptoms by providing the deficient enzyme. Supportive care, such as physical therapy to maintain mobility and manage joint stiffness, is also essential.

Additionally, surgeries may be needed to address specific complications like hernias or spinal issues. Regular monitoring by a multidisciplinary medical team is crucial to tailor interventions based on the individual's needs and disease progression.

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