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Isolated pancreatic amylase deficiency: probable error in maturation
D I Mehta1, H H Wang, R E Akins
1Department of Pediatrics, Alfred I. duPont Hospital for Children, Wilmington, DE 19899, USA.
The Journal of Pediatrics
|June 6, 2000
Summary
A boy with isolated pancreatic amylase deficiency experienced failure to thrive. This condition may stem from a failure in the maturation of pancreatic amylase secretion, despite normal messenger RNA levels.
Area of Science:
- Biochemistry
- Pediatric Gastroenterology
- Molecular Biology
Background:
- Failure to thrive (FTT) in infants can have various underlying causes.
- Pancreatic enzyme deficiencies can lead to maldigestion and FTT.
Observation:
- A case study of a boy presenting with FTT and isolated pancreatic amylase deficiency.
- Analysis of duodenal fluid revealed only salivary isoamylase, with no pancreatic amylase detected at 20 and 33 months of age.
Findings:
- Reverse-transcriptase polymerase chain reaction detected normal pancreatic amylase messenger RNA in the duodenal fluid.
- The absence of detectable pancreatic amylase protein suggests a post-transcriptional or post-translational defect.
Implications:
- This case highlights a potential novel mechanism for pancreatic enzyme deficiency.
- Understanding this specific defect in amylase secretion could inform diagnostic approaches for FTT.
- Further research into the maturation and secretion pathways of pancreatic enzymes is warranted.
