Nelson Textbook of Pediatrics 22nd Edition | Lysosomal storage disorders of sphingolipid catabolism: Tay-Sachs (HEXA, GM2), Sandhoff (HEXB), GM1 gangliosidosis (GLB1), Niemann-Pick types A/B (SMPD1), Gaucher (GBA), Krabbe (GALC), metachromatic leukodystrophy (ARSA). Clinical: neurodegeneration, cherry-red spot (Tay-Sachs, Niemann-Pick, GM1), hepatosplenomegaly, startle response, white matter disease. Diagnosis: enzyme assays, genetic testing. Treatment: supportive, HSCT for select (Krabbe, MLD), gene therapy.
🌐 paeds.online — Pakistan's Pediatric Platform