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Atypical Hurler syndrome without alpha-L-iduronidase deficiency
The Tohoku Journal of Experimental Medicine
|October 1, 1976
Summary
This study describes atypical Hurler syndrome cases lacking alpha-L-iduronidase deficiency. Patients showed classic symptoms and excreted excess GAGs, indicating a potential new subtype of mucopolysaccharidosis.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Hurler syndrome, a lysosomal storage disorder, is caused by alpha-L-iduronidase deficiency.
- It leads to the accumulation of glycosaminoglycans (GAGs), causing severe multisystemic symptoms.
Observation:
- Three patients presented with clinical and laboratory features consistent with Hurler syndrome.
- These patients exhibited characteristic facial features, intellectual disability, corneal clouding, skeletal abnormalities (dysostosis multiplex), joint stiffness, and enlarged liver and spleen.
Findings:
- Notably, these patients did not have a deficiency in alpha-L-iduronidase activity in leukocytes or liver tissue; levels were normal or elevated.
- Excessive urinary excretion of chondroitin sulfate B and heparitin sulfate was observed, confirming GAG accumulation.
Implications:
- These findings suggest a possible novel subtype of Hurler syndrome or a related mucopolysaccharidosis.
- Further research is needed to identify the underlying genetic and enzymatic defect in these atypical cases.