Abstract
Extract: Six patients with I-cell disease (ICD) are studied. Multiple acid hydrolase deficiencies are demonstrated in cultured skin fibroblasts. These include βs-galactosidase (2% of normal), β-glucosaminidase (8% of normal), β-glucuronidase (7% of normal), α-ga-lactosidase (10% of normal), and arylsulfatase A (5% of normal). Acid hydrolases found not to be deficient include β-glucosidase and acid phosphatase.
In brain and visceral organs, only β-galactosidase is deficient (27% of normal in brain; 11% of normal in liver).
A nonspecific accumulation of lipids of all classes occurs in skin fibroblasts (2–3 times normal), but not in brain or visceral organs.
No accumulation of acid mucopolysaccharides is demonstrated in skin fibroblasts or liver.
Speculation: I-cell disease may represent a unique opportunity for the study of control of intracellular levels of lysosomal enzymes.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Leroy, J., Ho, M., Macbrinn, M. et al. I-Cell Disease: Biochemical Studies. Pediatr Res 6, 752–757 (1972). https://doi.org/10.1203/00006450-197210000-00002
Issue Date:
DOI: https://doi.org/10.1203/00006450-197210000-00002
Keywords
This article is cited by
-
Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III
Skeletal Radiology (2019)
-
Bladder cancer cell growth and motility implicate cannabinoid 2 receptor-mediated modifications of sphingolipids metabolism
Scientific Reports (2017)
-
Plasma Membrane-Associated Glycohydrolases Activation by Extracellular Acidification due to Proton Exchangers
Neurochemical Research (2012)
-
Ionizing radiations increase the activity of the cell surface glycohydrolases and the plasma membrane ceramide content
Glycoconjugate Journal (2012)
-
Thin layer chromatography of gangliosides
Glycoconjugate Journal (2009)