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Lysosomal storage disorders in Thailand: the Siriraj experience
P Wasant1, S Wattanaweeradej, N Raksadawan
1Department of Pediatrics, Siriraj Hospital Medical School, Mahidol University, Bangkok, Thailand.
Insights
Lysosomal storage disorders are rare genetic conditions affecting multiple organs. Early diagnosis and genetic counseling are crucial for managing these complex biochemical disorders.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Lysosomal storage disorders (LSDs) comprise a group of over 40-50 distinct biochemical genetic conditions.
- These disorders are primarily inherited in an autosomal recessive pattern.
- Clinical presentation varies based on enzyme deficiency and affected tissues.
Observation:
- LSDs are categorized by primary pathology: central nervous system, reticuloendothelial system, or multisystem involvement with skeletal features.
- Common examples include gangliosidoses, leukodystrophies, Niemann-Pick disease, Gaucher disease, mucopolysaccharidoses, and mucolipidoses.
- Siriraj Hospital has identified numerous LSDs, including neuronal ceroid lipofuscinosis, GMI gangliosidosis, and Pompe disease.
Findings:
- A significant number of patients originate from regions with high consanguinity rates.
- Diagnosis is typically confirmed via enzyme assays on skin fibroblast cultures or leukocytes.
- Specific LSDs identified include mucolipidosis II, Maroteaux-Lamy, sialidosis, Sly syndrome, Hunter syndrome, and Morquio syndrome.
Implications:
- Genetic counseling is vital for affected families.
- Prenatal diagnosis is recommended for couples at high risk.
- Understanding the heterogeneity of LSDs aids in targeted diagnosis and management strategies.
Abstract:
Lysosomal storage disorders are a heterogeneous group of biochemical genetic disorders; currently 40-50 are known. The clinical phenotype is determined by the tissue distribution of the storage material and degree of enzyme deficiency. The genetic transmission is mostly autosomal recessive. Lysosomal storage disorders can be divided into three groups according to the major organ system pathology: (1) Primary involvement of the central nervous system without significant somatic or skeletal pathology. Disorders of grey matter, eg gangliosidosis and disorders of white matter eg the leucodystrophy are the most common; (2) Primary involvement of the reticuloendothelial system with or without associated neuropathology, eg Niemann-Pick disease and Gaucher disease; (3) Multisystem involvement in which skeletal manifestations are prominent features. The mucopolysaccharidosis and mucolipidoses are the two major forms with this clinical phenotype. Lysosomal storage disorders identified at Siriraj Hospital are neuronal ceroid lipofuscinosis, GMI gangliosidosis, mucolipidosis II, Maroteaux-Lamy, sialidosis, Sly syndrome, Hunter syndrome, Morquio syndrome, Gaucher disease, Niemann-Pick, Sandhoff disease, Pompe's disease and many more. Most patients came from the provinces where consanguinity is common. Confirmation usually is done by enzyme assays using skin fibroblast culture or leucocytes. Genetic counseling is extremely important and prenatal diagnosis is recommended to high-risk couple.