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Retinal Renal Dysplasia and Encephalopathy in a Patient with Triglyceride Storage Disease
Published online by Cambridge University Press: 01 August 2014
Abstract
A 10-year-old girl with tapetoretinal degeneration, renal dysplasia similar to juvenile nephronophtisis, gradually increasing mental deterioration, walking incoordination, obesity, and ichthyosis is reported.
Hystochemical analyses of the liver, spleen, intestine, lungs, myocardium, kidney, and brain, showed a glycolipid storage. A triglyceride storage in the liver was identified.
Triglyceride lipase activity was about 1% and acid lipase activity 10% with respect to normal controls.
A genetic factor, rather than a secondary metabolic inhibition of triglyceride lipase, is indicated by the normal activity of this enzyme in fatty liver from patients with Reye's syndrome and alcoholic cirrhosis. No inhibitor was found in triglyceride storage disease.
- Type
- 5. Free Contributions: First Group
- Information
- Acta geneticae medicae et gemellologiae: twin research , Volume 23 , supplement S1 , January 1974 , pp. 201 - 203
- Copyright
- Copyright © The International Society for Twin Studies 1974
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