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Lysosomal Storage Disorders

Lysosomal storage disorders are a group of genetically inherited disorders result from the defective functioning of a specific enzyme, which ultimately leads to the progressive accumulation of either undegraded substrates or catabolic products that are unable to escape from lysosomes. Defects in lysosomal enzymes and cofactors or transport proteins may give rise to specific lysosomal storage disorders and, based on the types of storage material accumulating, these are classified into sphingolipidosis, mucopolysaccharidoses, oligosaccharidoses, mucolipidoses, lipid storage disorders, glycogen storage disorders, lysosomal transport diseases and others.

Approximately 50 rare inherited metabolic disorders are classified as LSD. Most LSDs are recessive disorders and are commonly found in infantile and early juveniles.

Indications :
  • Unusual facial features (sometimes with enlarged tongue)
  • Cloudy appearance in the eyes
  • Purplish – blue skin rash
  • Distended belly or protrusions from the abdomen (may indicate enlarged organs or hernias)
  • Short stature, failure to grow / develop properly, skeletal deformities
  • Muscle weakness or lack of control, decline in motor skills or other development
  • Parental consanguinity
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