Storage Diseases & Metabolic Disorders:
Lysosomal, Glycogen & Mitochondrial Care

Lysosomes are the cell's recycling centres — tiny compartments inside each cell that break down worn-out molecules using a set of specialist enzymes. A lysosomal storage disease occurs when one of these enzymes is missing or deficient because of a gene mutation. Without the enzyme, the material it should break down — a lipid, a sugar chain, or a glycoprotein — accumulates inside the lysosome. As lysosomes swell with storage material, cells malfunction, organs enlarge (particularly the liver and spleen), bones are damaged, and in conditions where neurons are affected, the brain and nervous system deteriorate.

ERT involves giving the missing enzyme intravenously — infused directly into the bloodstream, from where it is taken up by cells and transported into lysosomes to break down the accumulated substrate. ERT is approved for Gaucher disease (imiglucerase, velaglucerase), Pompe disease (alglucosidase alfa, avalglucosidase alfa), Fabry disease (agalsidase alfa, agalsidase beta), and several MPS types. ERT works best when started before irreversible organ damage has occurred. At KIMS, we diagnose and refer patients for ERT as early as possible.

Yes — this combination is a classic presentation of Gaucher disease Type 1, the most common lysosomal storage disease. Hepatosplenomegaly (enlarged liver and spleen) + bone pain + pancytopenia (low red blood cells, white cells, and platelets) in the absence of a clear infectious or haematological explanation should prompt glucocerebrosidase enzyme assay immediately. At KIMS, a lysosomal enzyme panel is arranged urgently for any patient presenting with this combination. Gaucher disease is highly treatable with ERT, which reverses organomegaly and bone disease when started early. Call 040-44885000.

MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes) is a mitochondrial disorder where the energy-producing machinery of brain cells fails. Stroke-like episodes in MELAS differ from ischaemic strokes in that they are not caused by blocked blood vessels; they reflect metabolic failure of neurons in a region of the brain. They typically affect the occipital and parietal lobes, producing visual disturbances, headache, and seizures, in a young person with a maternal family history of similar episodes, hearing loss, or diabetes. MRI shows cortical T2 signal change not following a vascular territory. Serum and CSF lactate are elevated. At KIMS, this pattern prompts mtDNA sequencing. Call 040-44885000.

Yes — and this is one of the most important connections in metabolic neurology. The GBA gene, which causes Gaucher disease when both copies are mutated, is also the most common genetic risk factor for Parkinson's disease when only one copy is mutated (heterozygous). GBA heterozygous carriers — who include all parents of Gaucher disease patients and approximately 1 in 100 people in some populations — have a 5–10 times higher lifetime risk of Parkinson's disease than the general population. GBA-associated Parkinson's disease tends to have an earlier onset and more frequent dementia than idiopathic Parkinson's. At KIMS, GBA gene testing is offered to Parkinson's disease patients and to carriers identified through a family member's Gaucher diagnosis. Call 040-44885000.

Yes — direct appointments are accepted for storage-disease and metabolic-disorder assessments. Outpatient: 040-44885000 (Mon–Sat). If you have prior enzyme assay results, MRI, or genetic reports, please bring them — they make the first assessment more efficient.

Initial consultation is 30–60 minutes. Lysosomal enzyme panel results typically return in 2–4 weeks. Targeted gene sequencing takes 3–6 weeks; whole-exome sequencing 4–8 weeks; mtDNA sequencing 4–6 weeks. A complete diagnostic picture is usually in place within 6–8 weeks, with ERT eligibility and PAP application initiated in parallel.