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Mucolipidosis type III. Multiple elevated serum and urine enzyme activities
American Journal of Diseases of Children (1960)
|December 1, 1978
Summary
Mucolipidosis type III (ML III) is a rare genetic disorder characterized by skeletal abnormalities and enzyme deficiencies. This case highlights typical clinical and biochemical features, aiding in diagnosis and understanding of ML III.
Area of Science:
- Biochemistry
- Genetics
- Cell Biology
Background:
- Mucolipidosis type III (ML III) is a rare lysosomal storage disorder.
- It is characterized by skeletal dysplasia and enzyme deficiencies.
Observation:
- A 16-year-old female presented with growth retardation, dysostosis multiplex, joint stiffness, skin changes, corneal opacities, and hepatosplenomegaly.
- Fibroblast cultures revealed characteristic cellular inclusions.
Findings:
- Biochemical analysis showed normal urinary acid mucopolysaccharides.
- Deficient activity of multiple lysosomal hydrolases was observed in fibroblasts.
- Elevated levels of seven serum lysosomal hydrolases and four urinary lysosomal hydrolases were detected.
Implications:
- These findings support the diagnosis of ML III.
- Understanding the biochemical profile is crucial for differentiating ML III from other lysosomal storage diseases.
- Further research into lysosomal hydrolase deficiencies can inform therapeutic strategies.