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Alpha-mannosidosis and mutational analysis in a Turkish patient
Akgün Olmez1, Oivind Nilssen, Turgay Coşkun
1Section of Pediatric Nutrition and Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey.
The Turkish Journal of Pediatrics
|April 30, 2003
Summary
This case study details alpha-mannosidosis, a rare genetic disorder, identified by enzyme deficiency and a specific S453Y mutation. The findings aid in understanding and diagnosing this lysosomal storage disease.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Alpha-mannosidosis is a rare lysosomal storage disorder caused by alpha-mannosidase enzyme deficiency.
- It presents with a wide spectrum of clinical manifestations, often mimicking other genetic conditions like mucopolysaccharidosis.
- Early and accurate diagnosis is crucial for managing patient care and genetic counseling.
Observation:
- A patient presented with coarse facial features, hepatosplenomegaly, developmental delays, and deafness, initially suspected to have mucolipidosis.
- Peripheral blood smear showed characteristic vacuoles in lymphocytes and Reilly body-like granules in neutrophils.
- Urine oligosaccharide analysis revealed an abnormal trisaccharide band, prompting further investigation.
Findings:
- Enzyme assays confirmed significantly reduced alpha-mannosidase activity (2.6 micromol/g/hr) in white blood cells.
- Mutational analysis of the patient's DNA identified the specific S453Y mutation.
- These findings definitively confirmed the diagnosis of alpha-mannosidosis.
Implications:
- This case highlights the importance of considering alpha-mannosidosis in the differential diagnosis of lysosomal storage disorders.
- The identified S453Y mutation provides valuable data for genotype-phenotype correlation studies.
- Accurate molecular diagnosis facilitates genetic counseling and potential future therapeutic strategies for alpha-mannosidosis.