Glycogen storage disease, which is a metabolic disorderof glycogen storage, affecting 1 in 20000-40000 ive births. This is a case of yound adolescent female with glycogen storage disease type1b, presented with lactic acidosis and managed in ITU.
18 years old femae from Honk kong, student in a college, admitted to a dgh hospital with fever, vomiting and abdominal pain for a week. examination showed severe features of dehydration, hypotension and tachycardia. her blood gases showed ph od 7.35, bicarbonate was 15.5, lactae was 10.3, amylase was 46, was started on i/v fuids and admitted in a medical ward. while in the ward, patient deteriorated with persiting vomiting and hypoglycemia despite i/v dextrose.She was transferred to itu, started parenteral feeding, i/v pabrinex and 10% dextrose. was seen by dietician and special diet with cornstarch was started. while in itu , had neutropenia, fever spikes and stared on antibiotics for neutropenic sepsis.despite above , patient continued to have hypoglycaemia and parenteral feeding continued with dextrose i/v. as patient became stable, moved to a ward and continued monitoring blood sugar, neutrophil and lactate.
The challanges faced in managing glycogen storage diseases 1b are severe infection due to neutropenia and functional defects in neutrophils and monocytes. they may deveop concomitent kidney disease, otitis media nd diarrhoea.hypoglycaemia can be difficult to manage due to poor compliance with diet. They may require liver transplant as well. They are best followed up in specialist tertiary care centres with experts on metabolic diorders.