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Diabetes Care. 2008 Sep;31(9):1738-40. doi: 10.2337/dc07-2217. Epub 2008 Jun 10.

Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations.

Author information

1
Department of Clinical Medicine, University of Bergen, Bergen, Norway.

Abstract

OBJECTIVE:

To further define clinical features associated with the syndrome of diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl-ester lipase (CEL) gene and to assess the effects of pancreatic enzyme substitution therapy.

RESEARCH DESIGN AND METHODS:

Nine patients with CEL gene mutation, exocrine deficiency, and diabetes were treated and followed for 30 months.

RESULTS:

Treatment improved symptoms in seven of nine patients. Exocrine and endocrine function assessed by fecal elastase and A1C were not affected, although fecal lipid excretion was reduced. Vitamin E was low in all patients but increased with treatment (P < 0.001 at 30 months) and improved in five subjects. A predominantly demyelinating neuropathy was seen in a majority of patients, and carpal tunnel syndrome was common.

CONCLUSIONS:

Pancreatic enzyme substitution alleviated symptoms and malabsorption and normalized vitamin E levels. Glycemic control was not significantly affected. The CEL syndrome seems associated with a demyelinating neuropathology.

PMID:
18544793
PMCID:
PMC2518335
DOI:
10.2337/dc07-2217
[Indexed for MEDLINE]
Free PMC Article

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