Examination of tissue biopsied from the sural nerve under a microscope can reveal the presence of polyglucosan bodies. There will also be white matter changes visible in a magnetic resonance imaging scans. Classification
Adult polyglucosan body disease is an orphan disease and a glycogen storage disorder that is caused by an inborn error of metabolism, that affects the central and peripheral nervous systems.The condition in newborns caused by the same mutations is called glycogen storage disease type IV. Prevention
APBD can only be prevented if parents undergo genetic screening to understand their risk of producing a child with the condition; if in vitro fertilization is used, then preimplantation genetic diagnosis can be done to identify fertilized eggs that do not carry two copies of mutated GBE1. Management
As of 2015 there was no cure for APDB, instead symptoms are managed. There are various approaches to managing neurogenic bladder dysfunction, physical therapy and mobility aids to help with walking, and dementia can be managed with occupational therapy, counseling and drugs. Presently a number of promising research initiatives are underway in universities and hospitals in the United States, Canada, and Israel. These studies are in need of funding but due to the small number of known cases both research funding and participation is small. It is estimated that there are upwards of 12,000 cases in the United States, most of which are undiagnosed.
Dexlansoprazole, sold under the trade names Dexilant and Biozodex among others, is a medication which reduces stomach acid. It is used to treat gastroesophageal reflux disease. Effectiveness is similar to other proton pump inhibitors (PPIs). It is taken by mouth.Common side effects include diarrhea, abdominal pain, and nausea. Serious side effects may include osteoporosis, low blood magnesium, Clostridium difficile infection, anaphylaxis, and pneumonia. Use in pregnancy and breastfeeding is of unclear safety. It works by blocking H+/K+-ATPase in the parietal cells of the stomach.Dexlansoprazole was approved for medical use in the United States in 2009. In Canada in 2016, it was the most expensive PPI available. In 2019, it was the 218th most commonly prescribed medication in the United States, with more than 2 million prescriptions. Medical use
Dexlansoprazole is used to heal and maintain healing of erosive esophagitis and to treat heartburn associated with gastroesophageal reflux disease (GERD). It lasts longer than lansoprazole, to which it is chemically related, and needs to be taken less often. There is no good evidence that it works better than other PPIs. Adverse effects
The most significant adverse reactions (≥2%) reported in clinical trials were diarrhea, abdominal pain, bloating, nausea, upper respiratory tract infection, vomiting, and flatulence. Mechanism of action
Like lansoprazole, dexlansoprazole permanently binds to the proton pump and blocks it, preventing the formation of gastric acid. Chemistry
Dexlansoprazole is the (R)-(+)-enantiomer of lansoprazole, which is a racemic mixture of its (R)-(+) and (S)-(−)-enantiomers.