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Infantile sialic acid storage disease: biochemical studies
B Berra1, R Gornati, S Rapelli
1Institute of General Physiology and Biochemistry, University of Milano, Italy.
American Journal of Medical Genetics
|July 31, 1995
Summary
Infantile free sialic acid storage disease (ISSD) involves excessive free sialic acid in urine and lysosomes. This study confirms ISSD pathogenesis stems from impaired acid monosaccharide transport out of lysosomes.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Infantile free sialic acid storage disease (ISSD) is a rare inherited metabolic disorder.
- It is characterized by the accumulation of free sialic acid in lysosomes and its excessive excretion in urine.
Observation:
- A 3-month-old infant diagnosed with ISSD was studied post-mortem.
- Analysis included urine, brain, cerebellum, liver, spleen, and kidneys.
- Lysosomal pathology was confirmed via electron microscopy of cultured cells.
Findings:
- Tissue analysis revealed markedly increased levels of free and total sialic acid.
- No significant abnormalities were detected in cholesterol, phospholipids, glycolipids, or gangliosides.
- Specific differences in glycolipid and ganglioside tissue distribution were noted.
Implications:
- The findings confirm that ISSD is caused by a defect in acid monosaccharide transport from the lysosome.
- This understanding is crucial for diagnosing and potentially treating ISSD.
- Further research into lysosomal transport mechanisms is warranted.