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Feel free to jump down to the medical description of this condition below but also, get in community to learn more. Please utilise the groups below if you have not already had access to a support system amongst your journey of understanding Pompe Disease:
Websites you can use for support:
Facebook groups you can use for support:
Medical Information about Krabbe Disease:
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As a team, none of us ARE doctors; however we work with some amazing medical professionals that have given us more insight below. Please continue reading and use the information to navigate your own personal journey or share with anyone you may know may benefit.
Pompe disease is a rare inherited disorder with the absence or deficiency of an enzyme known as acid alpha-glucosidase (GAA) in children caused by mutation in the GAA gene. As a result, the body cannot make the protein which breaks down the complex carbohydrate called glycogen into simple ones like glucose for energy. The excessive accumulation of glycogen in the body mostly in the skeletal and heart muscles causing deformities and muscle weakness. The severity of the disease depends on the degree of deficiency of GAA. Depending upon the severity and the age at which it occurs, there are two types of Pompe disease: the early onset and the late onset which are given below along their symptoms.
Early onset Pompe disease
The early onset is also known as infantile Pompe disease and further categorized as classic in which the symptoms appear soon after birth and non-classic infantile Pompe disease in which the symptoms occur later but normally within first years of life 2.
Symptoms might include:
Late onset Pompe disease
Late onset also known as juvenile Pompe disease results due to the partial deficiency of GAA and the symptoms appear late in childhood or during adulthood.
The symptoms might include:
The diagnosis is usually based on clinical evaluation, biochemical tests, and the family history.
Treatment and Management
Patients with Pompe disease are usually offered symptomatic care. The enzyme replacement therapy has also been approved by clinical trials which involves administration of alglucosidase alfa or the Myozyme drug intravenously and it acts like the natural acid alpha-glucosidase enzyme and is usually given for infantile Pompe disease and Lumizyme© for all age groups. Another drug called Nexvia Zyme (avalglucosidare alfa-ngpt) has been used for children at age 1 or older with late onset disease.
The prognosis usually depends on the age of onset. In infantile onset, without treatment, the children usually die before age 1 mostly because of a thickened and enlarged heart causing cardiorespiratory failure. The progression of disease would be slow in later onset of disease. The prognosis is also dependent upon the involvement of respiratory muscles and severity of muscle weakness.
Who is at most risk for Pompe Disease?
As it is an autosomal recessive disorder, the risk for a child with both carrier parents to get Pompe disease is 25% and the risk of the child to be carrier of Pompe disease is 50%. The risks for both males and females are the same.