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lipid storage diseases

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  • 1. LIPID STORAGE DISEASES Presented by, DR. AHMAD JAN Student M. Phil Chemical Pathology FPGMI Lahore
  • 2. Lipids Lipids are fat-like substances that are important parts of the membranes found within and between each cell and in the myelin sheath that coats and protects the nerves. Lipids include oils, fatty acids, waxes, steroids (such as cholesterol and estrogen), and other related compounds.
  • 3. Why lipids are important- Lipids are important to the body because;- • Important constituent of the cell membranes. • Helps in the absorption of fat soluble vitamins. • Maintains membrane fluidity. • Acts as a thermal insulator and cellular metabolic regulator. • Hormone synthesis. • Organ padding. •
  • 4. Lipid storage diseases Lipid storage diseases, or lipidoses, are a group of inherited metabolic disorders in which harmful amounts of fatty materials called lipids accumulate in some of the bodys cells and tissues. People with these disorders either do not produce enough of one of the enzymes needed to metabolize lipids, or they produce enzymes that do not work properly. Over time, this excessive storage of fats can cause permanent cellular and tissue damage, particularly in the brain, peripheral nervous system, liver, spleen, and bone marrow.
  • 5. Inheritance Lipid storage diseases can be inherited two ways 1. Autosomal recessive inheritance occurs when both parents carry and pass on a copy of the faulty but none of the parents show symptoms of disease. 2. X-linked recessive (or sex linked) inheritance occurs when the mother carries the affected gene on the X chromosome that determines the child’s gender and passes it to her son.
  • 6. Pathophysiology Because glycosphingolipids are essential components of all cell membranes, inability to degrade these substances and their subsequent accumulation results in physiologic and morphologic alterations of specific tissues and organs that lead to characteristic clinical manifestations. In particular, progressive lysosomal accumulation of glycosphingolipids in the central nervous system can lead to a neurodegenerative course; whereas, storage in visceral cells can lead to organomegaly, skeletal abnormalities, bone marrow dysfunction, pulmonary infiltration, and other manifestations.
  • 7. Types of lipid storage diseases Niemann pick disease Fabry disease Farbers disease Gangliosidosis Krabbe disease Metachromatic leukodystrophy Wolmans disease
  • 8. Gaucher disease most common of the lipid storage diseases Cause caused by a deficiency of the enzyme glucocerebrosidase. Resulting in accumulation of glucocereboside in spleen ,liver, kidneys,lungs,brain and bone marrow. CLINICAL FEATURES Type 1 (non neuropathic form ) May be asymptomatic. Begin early in life Bruise easily Fatigue
  • 9.  Hepatomegally Spleenomegally Brain not affected Type 2 (acute infantile neuropathic ) Begins within three months of birth. Poor ability to suck and swallow. Abnormal eye movements. Extensive and progressive brain damage. Spasticity, Seizures and Limb rigidity. Hepatomegally and Splenomegally.
  • 10.  Type 3 (chronic neuropathic ) Can begin at any time in child hood or even inadult hood but milder neurologic symptoms as compared to type two. Respiratory problems. Anemia. Skeletal problems. Treatment For type 1 and most type 3 patients, enzyme replacement treatment given
  • 11.  intravenously every two weeks can dramatically decrease liver and spleen size, reduce skeletal abnormalities and other manifestations. bone marrow transplantation cures the non- neurological manifestations. Blood transfusion for anemia. Splenectomy (rarely ) No effective treatment for brain damage. Prognosis Type 1: may live well into adulthood. Type 2: usuallyo teen age die before age two. Type 3: live to teen age.
  • 12. Niemann-Pick disease Cause Niemann-Pick types A and B result from accumulation of the fatty substance called sphingomyelin, due to deficiency of an enzyme called sphingomyelinase. Resulting in accumulation of sphingomyelin in liver,spleen, bone marrow,lungs and in some patients in brain.
  • 13.  Type A Infants are normal at birth but at age of six years develop: Splenomegally Hepatomegally Swollen lymph nodes Profound brain damage (atraxia,spasticity,slurred speech,loss of muscle tone ) Anemia Susceptible to recurrent infections.
  • 14.  Type B enlargement of the liver and spleen characteristically occurs in the pre-teen years. Most patients also develop ataxia, peripheral neuropathy, and pulmonary difficulties progress with age. Brain is generally not affected. Treatment There is currently no cure for Niemann-Pick disease. Treatment is supportive.
  • 15. FABRY DISEASE The only X-linked lipid storage disease. Predominantly affecting males. Cause Deficiency of enzyme alpha galactosidase. Resulting in accumulation of globosides in nervous tissue,eyes,kidneysand cardiovascular system. Clinical features Burning pain in arms and legs Cardiomegally Fever Renal impairment
  • 16.  Angiokeratomas (small,non cancerous, reddish purple elevated spots on skin ) on lower part of trunk. Treatment Enzyme replacement therapy Phenytoin or carbamazepine for pain Dialysis or renal transplant.
  • 17. Angiokeratomas
  • 18. Farber’s disease Cause Deficiency of the enzyme called ceramidase. Resulting in accumulation of ceramide in joints , tissues and central nervous system. Clinical features Dyspnea Dysphagia Vomiting Arthritis Horseness Xenthemas Joint contractures
  • 19.  Treatment no specific treatment for Farber’s disease. Most children with the disease die by age 2.
  • 20. Krabbé disease Cause deficiency of the enzyme beta galactactosidase. Resulting in accumulation of galactocerebrosides in white matter of CNS and peripheral nerves. Clinical features Onset usually before age 6 months Hypertonia Seizures Spasticity Irritability Optic atrophy and blindness
  • 21.  Diagnosis Characteristic grouping of cells into globoid bodies in white matter of brain. Demyelination of nerves and degeneration and destruction of brain cells. Treatment No specific treatment Bone marrow tranasplantation helpful in some patients.
  • 22. Metachromatic leukodystrophy Cause Due to deficiency of enzyme arylsulfatase A. Resulting in accumulation of sulfatides in CNS, peripheral nerves and kidneys. Clinical features Normal at birth Develop difficulty in walking and tendency to fall followed by intermittent pain in arms and legs. Progressive loss of vision leading to blindness. Developmental delays. Dementia.
  • 23.  Tteatment Treatment is symptomatic and supportive. Bone marrow transplantation may delay progression of the disease in some casses.
  • 24. Gangliosidosis Two groups 1. GM 1 Gangliosidosis5 Cause Due to deficiency of enzyme beta galactosidase Resulting in abnormal storage of acidic lipid materials particularly in nerve cells of central and periphel nervous system.
  • 25.  Types a) Infantile Neurodegeration Seizures Hepatosplenomegally Coarsning of fascial features Skeletal irregularites Distended abdomen Deafness Blindness
  • 26.  Adult type Atrophy Dystonia Corneal clouding Angiokeratomas on lower part of trunk.
  • 27.  GM 2 Gangliosidosis Cause Due to deficiency of enzyme beta hexosaminidase. Types 1. Tay-Sachs disease Cause Due to deficiency of enzyme beta hexosaminidase A. Resulting in accumulation of gangliosides in nerve cells. Clinical features Initially normal Sign and symptoms begin at age of six months
  • 28.  Rapid and progressive neurodegeneration Cherry red spots in retinas Dementia Deafness Blindness Seizures Treatment No specific treatment Symptomatic and supportive Anticonvulsants for seizuress
  • 29.  2. Sandhoff disease Cause Due to deficiency of enzyme beta hexosaminidase A and B. Resulting in accumulation of gangliosides and globosides in nerve cells. Clinical features Same as Tay-sachs disease plus visceral involvement i.e hepatosplenomegally. Treatment Same as Tay-sachs disease.
  • 30. Diagnosis Diagnosis is made through clinical examination, biopsy, genetic testing, molecular analysis of cells or tissues, and enzyme assays (testing a variety of cells or body fluids for enzyme deficiency). In some forms of the disorder, a urine analysis can identify the presence of stored material.
  • 31.  References Lehninger,principles of biochemistry. Stryer,biochemistry.s Lppincott’s,biochemistry. Tietz,clinicil chemistry. CMDT by Lawrence. Online resources http://www.ninds.nih.gov http://emedicine.medscape.com http://www.sharecare.com http://www.britannica.com

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