Isolated Amylase Deficiency as a Cause of Failure to Thrive

The document reported a case of an 18-month-old Ashkenazi Jewish female with isolated amylase deficiency, which led to symptoms such as chronic diarrhea, failure to thrive, poor hair growth, and frequent infections. Despite normal stool pancreatic elastase levels, a pancreatic stimulation test revealed an isolated deficiency of amylase. After starting pancreatic enzyme supplementation, the patient showed significant improvement, including increased growth rate, resolution of diarrhea, improved hair growth, and fewer infections. The study concluded that isolated amylase deficiency could cause failure to thrive, and pancreatic stimulation tests should be considered in such evaluations, as normal elastase levels do not rule out this deficiency.