Acid maltase deficiency

By Medically reviewed by hellodoktor


What is acid maltase deficiency?

Acid maltase deficiency (AMD), or also known as Pompe disease, is a disease which is characterized by an excessive accumulation of glycogen within lysosome-derived vacuoles in nearly all types of cells. Excessive quantities of free extralysosomal glycogen also have been first described by JC Pompe in Amsterdam in 1932; Pompe reported the case of a 7-month-old girl who became fatally ill from what appeared to be lung inflammation. An autopsy revealed an unusually enlarged heart with normal valves.  For this reason, this disease is also called “Pompe disease”.

The following clinical phenotypes of AMD have been identified:

  • Infantile (Pompe disease)
  • Late infantile
  • Juvenile
  • Adult

How common is acid maltase deficiency?

Acid maltase deficiency is an extremely rare, congenitally inherited disorder with no gender preference. No racial or ethnic preference is observed. This type of disease occurs in 1 out of 50,000 live births. The correlation of acid maltase deficiency with age depends on the form of the disease.

However, it can be managed by reducing your risk factors. Please discuss with your doctor for further information.


What are the symptoms of acid maltase deficiency?

Acid maltase deficiency causes slowly progressive weakness, especially of the respiratory muscles and those of the hips, upper legs, shoulders and upper arms.

Secondly, enlargement of the tongue and liver impairment occur in the infantile form but rarely in the older-onset forms.

Next, cardiac involvement may occur in the infantile or childhood forms but is less common in adults.

The childhood and adult-onset forms are milder than the infantile form, but may cause severe weakness and respiratory insufficiency, and, without treatment, shortened life span.

When should I see my doctor?

Early diagnosis and treatment can stop this condition from worsening and prevent another medical emergency, so talk to your doctor as soon as possible to prevent this serious condition.

If you have any questions, please consulting with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.


What causes acid maltase deficiency?

The primary cause of acid maltase deficiency is deletions or missense mutations (mutations in which the base replacement changes the codon for one amino acid to that for another) usually are associated with the infantile variant (Pompe disease), whereas “leaky” (partial) mutations.

The absence of acid maltase leads to an excessive accumulation of glycogen. The presence of abnormal quantities of glycogen disrupts the normal architecture and function of the affected cells. The excess glycogen is expected to be, at least initially, in the vacuolar system. This has been found to be true in the liver and in other tissues.

Risk factors

What increases my risk for acid maltase deficiency?

You may have higher risks for this condition if you are experiencing these following conditions:

  • Acid maltase deficiency runs in the families and hence, children born in families with a medical history of the condition are at risk;
  • Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is acid maltase deficiency diagnosed?

If your doctor suspects that you experience acid maltase deficiency, he/she will perform an exam thoroughly to determine this condition.

Some tests that can help doctor to determine the condition:

  • Measurement of acid alpha-glucosidase enzyme activity in dried blood specimens is an optimal and reliable diagnostic test for acid maltase deficiency.
  • Serum CK usually is elevated in the forms of the disease that affect younger patients, but CK can be within the reference range in the adult variety.
  • Serum aspartate aminotransferase and lactic dehydrogenase can also be elevated.
  • The tissue concentration level of acid maltase helps to establish a definite diagnosis.

How is acid maltase deficiency treated?

There are some treatment options that your doctor may offer:

  • Physical Therapy

Due to extended survival and musculoskeletal involvement, physiatric and orthopedic treatment may gain in importance.

  • Medication

Treatment for this fatal disorder is limited. A copious amount of research into acid maltase deficiency (AMD) is exploring the possibility of replacing the deficient enzyme by means of gene therapy.

Emerging research has shown that infusions of recombinant human alpha-glucosidase from rabbit milk is helpful for stabilizing pulmonary function and improving muscle fatigue in early onset and late-onset Pompe disease

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage acid maltase deficiency?

Acid maltase deficiency is an inherited, autosomal recessive disorder; therefore, there are no prevention measures for it. Genetic counseling can help you assess your risk before giving birth.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

msBahasa Malaysia

Review Date: June 27, 2017 | Last Modified: September 12, 2019