APBD is a condition that affects the nervous system. People with this condition have problems walking due to reduced sensation in their legs (peripheral neuropathy) and progressive muscle weakness and stiffness (spasticity). Also, they have progressive difficulty in controlling the [Read More]

APBD is a rare condition. Recently, Dr. Ruth Kornreich of Mount Sinai Medical Center in NYC found a 1:48 carrier frequency for either of the two most common APBD mutations [1) p.Y329S and (2)Dr. Akman’s recently discovered intronic mutation]. These [Read More]

Mutations in the glycogen branching enzyme (GBE) gene cause adult polyglucosan body disease. The GBE gene provides instructions for making the glycogen branching enzyme. This enzyme is involved in the production of a complex sugar called glycogen, which is a [Read More]

Yes.  Genetic testing and blood protein sampling can detect or suggest mutations in the GBE1 gene known to cause APBD and are available only as a diagnostic service at specialized laboratories. For more information, please visit our testing info webpage.

Recently, the Baylor Metabolic Institute completed a six-year clinical controlled study of triheptanoin oil for treating APBD. This oil is made from caster bean—containing seven carbon atoms whereas foods have an even number—that circumvents the GBE and provides 500 calories [Read More]

There are no current treatments or recommendations for supportive care. To our knowledge no research is being conducted regarding supportive care. Each patient has customized supportive care from their physician based on their disability. According to the literature, APBD shortens [Read More]

Recently, the Baylor Metabolic Institute completed a six-year controlled clinical trial of Triheptanoin, an alternative energy source for APBD patients. The Adult Polyglucosan Body Disease Research Foundation (APBDRF) anticipates that the results of this drug trial will be unblinded soon. [Read More]

APBD is a genetic disorder that results in the low activity of an important enzyme, Glycogen Branching Enzyme (GBE1), which is used to make glycogen. What is glycogen? Glycogen is the reserve “fuel” that is stored in your cells. Stored [Read More]

First, when there is low activity of the branching enzyme, newly formed glycogen is manufactured incorrectly into long strands called “polyglucosan bodies.” These polyglucosan bodies cannot be used for fuel, so they build up inside nerve cells. This causes damage [Read More]

Onset of symptoms may occur as early as age 35. Generally, however, most people are diagnosed in their 50s or 60s. The typical APBD patient will begin with numbness in his or her extremities, often in the toes and feet. [Read More]

There is a lot of interest in Amy genes these days because some people have more copies than others and those who do more fully digest starch and thus extract more glucose from food and as such tend to be [Read More]

Dr Kakhlon February 2016 A few years ago we did try a stem cell approach for curing APBD. Neurological stem cell therapy is an expertise of our Department with world leading researchers such as Profs. Karussis and Ben Hur. However, [Read More]

Each gene in the body is made of one allele (a grouping of instructions) which originated from the mother and another allele which originated from the father. Picture the alleles as two railroad trains having cars loaded with various kinds [Read More]

The difference in GBE activity for the homozygous and compound heterozygous patients does not seem to make a difference functionally. But clinical assessments need to confirm this point.

We have not seen any homozygous patients with the intron 15 mutation on each allele. It is thought that the condition is prenatally fatal and results in miscarriage of the pregnancy or in early infant death. The APBDRF is sponsoring [Read More]

APBD research scientists have taken different approaches to treat APBD. Some have adopted a specific approach to address either homozygous or compound heterozygous APBD patients. Others are working on a universal approach for treating both types of APBD patients.

Biochemical markers are not acceptable end points because in certain diseases fixing biochemical defects do not really improve the symptoms. Therefore endpoints are all physical measures like 6 min walk test, feeling better or improving urinary incontinence. It is even [Read More]

Polyglucosan bodies can not be measured. Biochemically it is determined in histological slides by comparing images of digested and undigested glycogen with a-amylase in serial slides.

Some patients with APBD manifest significant postural hypotension, sometimes leading to syncope episodes because of inappropriate cardiac response. These are related to autonomic nervous system involvement by the disease. Occasionally, patients also have hypothermia (low body temperature) and hyponatremia (low [Read More]

Pain is rare in APBD, less often than numbness or paresthesias. When it occurs, it involves feet and distal legs and is related to the peripheral neuropathy. Pain in the groin must be specifically evaluated to rule out other causes.