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Faecal elastase-1 (FE1) is a sensitive marker for exocrine pancreatic enzyme insufficiency.
The common mutations found in the lysosomal enzyme deficient in Gaucher disease, β-glucocerebrosidase, earmark these proteins for destruction by the endoplasmic reticulum-localised protein folding machinery, resulting in enzyme insufficiency, lysosomal glycolipid storage and subsequent pathology.
An example of a fatal genetic disease due to enzyme insufficiency is Tay-Sachs disease, in which patients lack the enzyme hexosaminidase.
In their study, 11/27 patients had bicarbonate plus enzyme insufficiency or enzyme insufficiency alone, while 18/27 patients had isolated decreased lipase levels.
If untreated, patients are likely to suffer from chronic respiratory infections, pancreatic enzyme insufficiency and associated complications.
This highly efficient gene transfer to exocrine acinar cells might be applicable for the gene therapy of pancreatitis, pancreatic malignancy and exocrine enzyme insufficiency, for example.
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CAH is the most common endocrine disorder of genetic origin, characterized by specific enzyme deficiency that leads to defects in adrenal steroidogenesis, resulting in adrenal insufficiency and hyperandrogenism [ 1].
In the late-onset forms, caused by a partial enzyme deficiency, cardiac muscle is spared, but slowly progressive skeletal muscle weakness leads to wheelchair and ventilator dependence, and premature death from respiratory insufficiency [3].
Bile salt stimulated lipase (BSSL; Enzyme Commission (EC) number 3.1.1.13) has been a candidate triglyceridase for improving enzyme therapy for pancreatic insufficiency; however, its efficacy is near absent.
His previous history was remarkable for recurring nasal polyposis requiring endoscopic surgery and exocrine pancreatic insufficiency necessitating enzyme replacement therapy.
ACE: Angiotensin Conversion Enzyme; AKI: Acute Kidney Insufficiency; ARB: Angiotensin II receptor blockers; IQR: interquartile range; MAP: mean arterial pressure; NSAID: Non Steroidal Anti Inflammatory Drug.
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