Abstract
Two brothers of Arab origin, aged 15 and 10 years, with isolated congenital lipase and colipase deficiency are described. Both were normally developed with a history of passing greasy stools since early infancy. Both have remarkable steatorrhoea and low serum carotene and vitamin E concentrations. After exocrine pancreatic stimulation, lipase and colipase activities in the duodenal fluid were almost completely absent, while amylase trypsin, bile salt, and pH values were normal. No other aetiology for exocrine pancreatic insufficiency was found. This is the first report of congenital combined lipase and colipase deficiency in two brothers.
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Selected References
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- Abrams C. K., Hamosh M., Lee T. C., Ansher A. F., Collen M. J., Lewis J. H., Benjamin S. B., Hamosh P. Gastric lipase: localization in the human stomach. Gastroenterology. 1988 Dec;95(6):1460–1464. doi: 10.1016/s0016-5085(88)80063-5. [DOI] [PubMed] [Google Scholar]
- BASKYS B., KLEIN E., LEVER W. F. LIPASES OF BLOOD AND TISSUES. III. PURIFICATION AND PROPERTIES OF PANCREATIC LIPASE. Arch Biochem Biophys. 1963 Aug;102:201–209. doi: 10.1016/0003-9861(63)90171-1. [DOI] [PubMed] [Google Scholar]
- Borgström B. Relative colipase deficiency as a cause of fat malabsorption in humans and the importance of the law of mass action for clinical medicine. Gastroenterology. 1984 Jan;86(1):194–196. [PubMed] [Google Scholar]
- Borgström B., Wieloch T., Erlanson-Albertsson C. Evidence for a pancreatic pro-colipase and its activation by trypsin. FEBS Lett. 1979 Dec 15;108(2):407–410. doi: 10.1016/0014-5793(79)80574-8. [DOI] [PubMed] [Google Scholar]
- Brogström B., Hildebrand H. Lipase and co-lipase activities of human small intestinal contents after a liquid test meal. Scand J Gastroenterol. 1975;10(6):585–591. [PubMed] [Google Scholar]
- Figarella C., De Caro A., Deprez P., Bouvry M., Bernier J. J. Un nouveau cas de déficience congénitale en lipase pancréatique avec présence de colipase. Gastroenterol Clin Biol. 1979 Jan;3(1):43–46. [PubMed] [Google Scholar]
- Figarella C., De Caro A., Leupold D., Poley J. R. Congenital pancreatic lipase deficiency. J Pediatr. 1980 Mar;96(3 Pt 1):412–416. doi: 10.1016/s0022-3476(80)80683-4. [DOI] [PubMed] [Google Scholar]
- Figarella C., Negri G. A., Sarles H. Presence of colipase in a congenital pancreatic lipase deficiency. Biochim Biophys Acta. 1972 Sep 7;280(1):205–211. doi: 10.1016/0005-2760(72)90227-5. [DOI] [PubMed] [Google Scholar]
- Gaskin K. J., Durie P. R., Hill R. E., Lee L. M., Forstner G. G. Colipase and maximally activated pancreatic lipase in normal subjects and patients with steatorrhea. J Clin Invest. 1982 Feb;69(2):427–434. doi: 10.1172/JCI110466. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Gaskin K. J., Durie P. R., Lee L., Hill R., Forstner G. G. Colipase and lipase secretion in childhood-onset pancreatic insufficiency. Delineation of patients with steatorrhea secondary to relative colipase deficiency. Gastroenterology. 1984 Jan;86(1):1–7. [PubMed] [Google Scholar]
- Ghishan F. K., Moran J. R., Durie P. R., Greene H. L. Isolated congenital lipase-colipase deficiency. Gastroenterology. 1984 Jun;86(6):1580–1582. [PubMed] [Google Scholar]
- Guggenheim M. A., Ringel S. P., Silverman A., Grabert B. E. Progressive neuromuscular disease in children with chronic cholestasis and vitamin E deficiency: diagnosis and treatment with alpha tocopherol. J Pediatr. 1982 Jan;100(1):51–58. doi: 10.1016/s0022-3476(82)80234-5. [DOI] [PubMed] [Google Scholar]
- Hildebrand H., Borgström B., Békássy A., Erlanson-Albertsson C., Helin I. Isolated co-lipase deficiency in two brothers. Gut. 1982 Mar;23(3):243–246. doi: 10.1136/gut.23.3.243. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Larbre F., Hartemann E., Cotton J. B., Mathieu M., Charrat A., Moreau P. Diarrhée chronique par absence of lipase pancréatique. Pediatrie. 1969 Oct-Nov;24(7):807–813. [PubMed] [Google Scholar]
- Lebenthal E., Lee P. C. Development of functional responses in human exocrine pancreas. Pediatrics. 1980 Oct;66(4):556–560. [PubMed] [Google Scholar]
- Liao T. H., Hamosh P., Hamosh M. Fat digestion by lingual lipase: mechanism of lipolysis in the stomach and upper small intestine. Pediatr Res. 1984 May;18(5):402–409. doi: 10.1203/00006450-198405000-00002. [DOI] [PubMed] [Google Scholar]
- Muller D. P., McCollum J. P., Trompeter R. S., Harries J. T. Proceedings: Studies on the mechanism of fat absorption in congenital isolated lipase deficiency. Gut. 1975 Oct;16(10):838–838. [PubMed] [Google Scholar]
- ROTH M. DOSAGE FLUORIM'ETRIQUE DE LA TRYPSINE. Clin Chim Acta. 1963 Jul;8:574–578. doi: 10.1016/0009-8981(63)90107-4. [DOI] [PubMed] [Google Scholar]
- Rey J., Frezal J., Royer P., Lamy M. L'absence congenitale de lipase pancreatique. Arch Fr Pediatr. 1966 Jan;23(1):5–14. [PubMed] [Google Scholar]
- SHELDON W. CONGENITAL PANCREATIC LIPASE DEFICIENCY. Arch Dis Child. 1964 Jun;39:268–271. doi: 10.1136/adc.39.205.268. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Shwachman H., Lebenthal E., Khaw K. T. Recurrent acute pancreatitis in patients with cystic fibrosis with normal pancreatic enzymes. Pediatrics. 1975 Jan;55(1):86–95. [PubMed] [Google Scholar]
- Tietz N. W., Shuey D. F., Astles J. R. Turbidimetric measurement of lipase activity--problems and some solutions. Clin Chem. 1987 Sep;33(9):1624–1629. [PubMed] [Google Scholar]
- Verger P., Babin R., Guillard J. M., Babin J. P., Cixous P., Laigle J. L. Stéatorrhée chronique de l'enfant par insuffisance congénitale de la lipase pancréatique. Arch Fr Pediatr. 1971 Nov;28(9):992–992. [PubMed] [Google Scholar]
