Pompe disease is a rare genetic disorder that happens when the body cannot form a protein that breaks down a complex sugar called glycogen for energy, results in high sugar and damages muscles & organs.

Pompe disease is often a fatal disorder and it mainly disables heart and skeletal muscles.

 

CAUSES:

Pompe disease is a genetic disorder and a person acquire this when they inherit a non-working or mutated GAA (Alpha Glucosidase) gene from each parent.  The GAA gene instruct body to produce an enzyme called acid alpha-glucosidase or acid maltase. This acid alpha-glucosidase enzyme helps body to break down large glycogen molecules into glucose to generate energy.

Thus, when GAA is not working glycogen cannot be broken down and builds to toxic level inside cells that affect heart and muscle mainly.

TYPES:

Pompe disease mainly has three types, such as:

Classic Infantile-Onset~ Classic infantile onset pompe disease show symptoms within the first few months of life, like around 4 months. In this type people have less than 1% of normal GAA enzyme activity.

Non Classic Infantile-Onset~ Symptoms of non classic infantile onset starts within the first year of life. Symptoms of non classic infantile onset are less severe than classic infantile onset.

Late-Onset~ Some other name of this form of pompe disease is juvenile/adult-onset pompe disease because this form begins later in life like during childhood or adulthood. In this form people have less than 40% of GAA enzyme activity.

SYMPTOMS:

Classic Type-

Weak muscle, poor muscle tone, enlarged liver, trouble breathing, feeding problems.

Non-Classic Type-

Abnormally large heart, motor skills delayed, breathing problems.

Late Onset Type-

 Legs and trunk get steadily weak, breathing problems, enlarged heart, headache in the morning, losing weight, irregular heartbeat, hearing problem, swallow problem.

PREVENTION/TREATMENT:

Early treatment is very important and helpful for babies to prevent further damage in the body and to recover fast.

Medication and enzyme replacement therapy is approved treatment for all pompe patients and symptoms also treated by supportive treatments.

 

Reference:

https://my.clevelandclinic.org/health/diseases/15808-pompe-disease?__cf_chl_captcha_tk__=GOnkaWd7Kq7TqMsOOO25GLh1MXACWn3ybTdZhVNCFDc-1637818360-0-gaNycGzNCj0

https://pompediseasenews.com/types-pompe-disease/

https://medlineplus.gov/genetics/condition/pompe-disease/