Metabolic and Mitochondrial Disorders

Metabolic and Mitochondrial disorders
Metabolic disorders are usually under-recognised and can present as vomiting, refusing to eat, respiratory distress, convulsions, sudden lethargy, jaundice, hepatosplenomegaly, developmental delay, neonatal deaths. Some disorders like the lysosomal storage disorders lead to significant disability.
The clinic offers testing and management of all metabolic disorders like:
- Urea cycle defects
- Organic acidemias
- Fatty acid oxidation defects
- Lysosomal storage disorders like mucopolysaccharidosis (MPS), oligosaccharide storage disorders (like Tay Sach’s, GM1 gangliosidosis, mucolipidosis etc.)
- Glycogen storage disorders.
- Congenital disorders of glycosylation
- Mitochondrial disorders etc.

Metabolic and Mitochondrial disorders