Hypoglycemia, or low blood sugar level, is the most common metabolic condition in young children. Without understanding the reason for a child’s low blood sugar level, treatment becomes unreliable and subsequent low blood sugar levels may be life-threatening. Accordingly, this project is investigating the following key questions:
We will evaluate the occurrence of a newly identified treatable disorder in young children. Children born with this disease, called congenital glycosylation defect (CDG), have difficulties to assemble sugar chains from sugar residues and cannot attach the sugar chains to their body proteins.
Last year we discovered a treatable form of this disease. Patients with the disease suffer from low blood sugar levels in the first few years of life. If the disease is undetected, children may develop seizures and brain damage. Fortunately, if this condition is diagnosed early, these symptoms are fully treatable. Sadly, we are currently unaware of how many patients have this new disease.
We want to find and treat children born with this disease to improve our understanding of the sugar chain assembly defect and the associated symptoms.
A simple screening method, transferrin isoelectric focusing, will be used to identify children with this new condition. Using a single drop of blood or blood plasma, this method analyzes the number of sugar chains in the patients’ blood and determines the amount of milk sugar residues missing from the patients’ blood proteins. The results of this study will provide important insights on a new disease for pediatricians, primary care physicians, laboratory experts and scientists .
Beginning in 2014, we hope to recruit and then enroll 250 patients for this project. Using 1 mL of blood or plasma collected from each participant, we will screen all patients for suspected low blood sugar level and then further explore their blood for a possible sugar chain-building defect. In addition to screening for liver function problems, we intend to collect information about the clinical symptoms, age of presentation, and laboratory abnormalities characteristic of this newly discovered disease.
Awarded funding will be applied to direct laboratory costs (purchasing necessary reagents for blood analysis and blood analysis procedures - $5500), data collection costs (blood sample shipping and storage- $3000) and patient confidentiality and privacy costs (safe data management - $500). The apparatus for the sample screening is already available and not included in this budget.