When Metabolic Waste Builds Up in the Body: Understanding Lysosomal Storage Disorders

Lysosomal Storage Disorders (LSDs) are rare, progressive genetic diseases that may often go undiagnosed for years. Their symptoms mimic common conditions, leading children and adults to undergo repeated tests—and sometimes even unnecessary surgeries—before the true cause is found. In this video, Dr. Shruti Bajaj, Clinical Geneticist at The Purple Gene Clinic, explains LSDs in simple language: •⁠ ⁠What lysosomes are and why they matter •⁠ ⁠How missed waste recycling inside cells leads to organ damage •⁠ ⁠Key warning signs: enlarged liver and spleen, big belly, anemia, bone crisis, fractures, short stature, developmental delay, neuroregression, joint laxity or contractures, hearing issues, heart or breathing problems, hernias •⁠ ⁠Why conditions like Gaucher disease, Pompe disease, Fabry disease, MPS I, II, III, IV, VI, and others are frequently misdiagnosed •⁠ ⁠How some LSDs are treatable with Enzyme Replacement Therapy (ERT) •⁠ ⁠The challenges of access and the support offered by India’s National Policy for Rare Diseases and the Lysosomal Storage Disorders Support Society (LSDSS) •⁠ ⁠A real case of a child with MPS IV (Morquio syndrome) whose life was saved through timely genetic diagnosis and early spine intervention LSDs may be rare, but early suspicion, timely genetic testing and appropriate treatment can prevent disability and transform lives. For consultations or genetic counselling, contact The Purple Gene Clinic, Mumbai. #LysosomalStorageDisorders #GaucherDisease #PompeDisease #FabryDisease #MPS #RareDiseasesIndia #GeneticDisorders #ClinicalGenetics #EnzymeReplacementTherapy #MPS4 #MorquioSyndrome #Gaucher #LSDSS #NationalPolicyForRareDiseases #GeneticTesting #PediatricGenetics #ThePurpleGeneClinic #DrShrutiBajaj #Neurogenetics #MetabolicDisorders #OrphanDrugs #rarediseaseawareness Timestamps - 0:00 – Introduction 0:33 – About Lysosomal Storage Disorders 1:05 – Red Flags & Warning Signs 1:42 – Challenges and Misdiagnosis 3:00 – Treatment & Enzyme Replacement Therapy 4:16 – Support From National Policy & LSDSS 4:41 – Real-Life Case Example (MPS IV) 5:25 – Patient Testimonial 6:29 – Outro & Key Takeaways