Genomic coordinate (human 10:116,545,931 PNLIP) & (mouse 19:58,658,797 Pnlip).
Cytoband (human 10q25.3 PNLIP) & (mouse 19qD3 Pnlip).
Here I present: “Pancreatic Lipase Deficiency”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (PNLIP) icd10=K86.81
INTRODUCTION.
Pancreatic lipase deficiency is an enzymatic form of exocrine pancreatic failure. All reported patients have presented with similar symptoms and clinical findings, including oily/greasy stools from infancy or early childhood and the absence of discernible pancreatic disease. Failure to thrive has not been observed. Analyses of duodenal contents consistently show a marked decrease of pancreatic lipolytic activity.
THE PANCREAS.
The pancreas is an organ of the digestive system and endocrine system of vertebrates. In humans, it is located in the abdomen behind the stomach and functions as a gland. The pancreas is a heterocrine gland (it has both an endocrine and a digestive exocrine function). Ninety-nine percent of the pancreas is exocrine and 1% is endocrine.
As an endocrine gland, it functions mostly to regulate blood sugar levels, secreting the hormones insulin’, glucagon, somatostatin and pancreatic polypeptide.
As a part of the digestive system, it functions as an exocrine gland secreting pancreatic juice into the duodenum through the pancreatic duct. This juice contains bicarbonate, which neutralizes acid entering the duodenum from the stomach; and digestive enzymes, which break down carbohydrates, proteins and fats in food entering the duodenum from the stomach.
There is evidence that pancreatic lipase deficiency is caused by mutation in the pancreatic lipase enzyme (PNLIP) gene encoded on genomic coordinate 10:116,545,931 and cytoband 10q25.3 in humans.
