Successfully reported this slideshow.
We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. You can change your ad preferences anytime.


Lipid storage diseases Slide 1 Lipid storage diseases Slide 2 Lipid storage diseases Slide 3 Lipid storage diseases Slide 4 Lipid storage diseases Slide 5 Lipid storage diseases Slide 6 Lipid storage diseases Slide 7 Lipid storage diseases Slide 8 Lipid storage diseases Slide 9 Lipid storage diseases Slide 10 Lipid storage diseases Slide 11 Lipid storage diseases Slide 12 Lipid storage diseases Slide 13 Lipid storage diseases Slide 14 Lipid storage diseases Slide 15 Lipid storage diseases Slide 16 Lipid storage diseases Slide 17 Lipid storage diseases Slide 18 Lipid storage diseases Slide 19 Lipid storage diseases Slide 20 Lipid storage diseases Slide 21 Lipid storage diseases Slide 22 Lipid storage diseases Slide 23 Lipid storage diseases Slide 24 Lipid storage diseases Slide 25 Lipid storage diseases Slide 26
Upcoming SlideShare
Lipid chemistry
Download to read offline and view in fullscreen.



Download to read offline

Lipid storage diseases

Download to read offline

Important lipid storage diseases

Related Audiobooks

Free with a 30 day trial from Scribd

See all

Lipid storage diseases

  1. 1. Lipid Storage Diseases Published in Students corner Biochemistry For Medics By- Shivanee Dunneram
  2. 2. Presented by; Shivanee Dunneram Roll no:18
  3. 3. Introduction Tay Sach Disease Gaucher Disease Niemann Pick Disease Other lipid storage Diseases
  4. 4. Tay Sach Disease: Biomedical defect • This is an inborn error of metabolism due to failure of degradation of gangliosides. • The enzyme hexosaminidase A is deficient.  composed of an α and β subunits  Mutation in α subunit,15q23
  5. 5. It is inherited as an autosomal recessive traits, with a predilection in the Ashkenazi Jewish population, where the carrier frequency is about 1/25.
  6. 6. Tay Sach Disease: Clinical Symptoms and classification Tay-Sachs disease is classified in variant forms, based on the time of onset of neurological symptoms. Infantile TSD  Birth: normal but develop  Loss of motor skills  Increased startle reaction  Macullar pallor and retinal cherry red spot  5-6 months  Decreased eye contact  Hyperacusis  Progressive development of idiocy and blindness  are diagnostic of this disease and they are due to wide spread injury to ganglion cells, in brain and retina.
  7. 7. Tay Sach Disease: Clinical symptoms and Classication Juvenile TSD  extremely rare  presents itself in children between 2 - 10 years develop cognitive,  motor, speech difficulties (dysarthria),  swallowing difficulties (dysphagia),  unsteadiness of gait (ataxia), and spasticity.  Patients with Juvenile TSD usually die between 5–15 years.
  8. 8. Tay Sach Disease: Clinical symptoms and Classication Adult/Late Onset TSD.  rare form of the disorder  occurs in patients in their 20s and early 30s. It is characterized by  unsteadiness of gait and  progressive neurological deterioration. Symptoms of LOTS, include  speech and swallowing difficulties,  unsteadiness of gait,  spasticity, cognitive decline,  and psychiatric illness
  9. 9. This disease is a multisystem lipidosis characterized by hematological changes, organomegaly and skeletal involvement, manifested in the form of bone pains and multiple fractures. It is the most common genetic disorder among Ashkenazi Jews. It is the commonest Lysosomal storage disease.
  10. 10. Gaucher disease :Biochemical defect • results from deficient activity of Lysosomal Hydrolase, β- Glucocerebrosidase. • enzyme defect results in accumulation of undegraded glycolipid in the form of Glucosyl ceramide in the cells of reticuloendothelial system. β- Glucocerebrosidase
  11. 11. There are three clinical subtypes • 1)Type-1- (from early childhood- adulthood) • easy bruising due to thrombocytopenia, chronic fatigue due to anemia, hepatomegaly • Progressive enlargement of spleen • Clinical bone involvement in the form of bone pains, or pathological fractures.
  12. 12. Type 2- • less common, • characterized by neurodegeneration, extreme visceral involvement • death within 2 years of life. Type 3- • is intermediate in presentation to type 1 and 2. • Neurological involvement is there but occurs later in life with decreased severity as compared to Type 2.
  13. 13. • Enzyme activity testing: A finding of less than 15% of mean normal activity is diagnostic. • Genotype testing: Molecular diagnosis can be helpful, Especially in Ashkenazi patients. • Complete blood count: • to assess the degree of cytopenia. • Liver function enzyme testing: the presence of jaundice or impaired hepatocellular synthetic function
  14. 14. Ultrasonography Hip MRI may be useful in revealing early avascular necrosis. Skeletal radiography Liver biopsy
  15. 15. Niemann Pick disease: Inheritance • Is a congenital disease • Autosomal recessive in nature • There are 2 types: A and B • Type A: more common present in 1/40000 population • Type B: present in 1/80000 population • More common in Jewish population
  16. 16. Niemann Pick disease :Clinical manifestation TypeA Niemann Pick disease: there is progressive mental retardation, hepatosplenomegaly because of progressive accumulation of sphingomyelin • Children die within 2 years of life Type B: there is no involvement of brain but sphingomyelin is present in excessive amount in liver, spleen, and bone marrow. • Death occurs within 20 years of life • Treatment: only symptomatic • treatment is given.
  17. 17. Disease Enzyme Lipid Accumulating Clinical Symptoms Deficiency Tay Sach’s Disease Hexosaminidase GM2 Ganglioside Mental retardation, blindness, A muscular weakness Fabry's disease α-Galactosidase Globotriaosylceramid Skin rash, kidney failure (full e symptoms only in males; X- linked recessive). Metachromatic leukodystrophy Arylsulfatase A Sulfogalactosylceram Mental retardation and ide Psychologic disturbances in adults; demyelination. Krabbe's disease β-Galactosidase Galactosylceramide Mental retardation; myelin almost absent. Gaucher's disease β -Glycosidase Glucosyl ceramide Enlarged liver and spleen, erosion of long bones, mental retardation in infants. Niemann-Pick disease Sphingomyelina Sphigomyelin Enlarged liver and spleen, se mental retardation; fatal in early life. Farber's disease Ceramidase Ceramide Hoarseness, dermatitis, skeletal deformation, mental retardation; fatal in early life
  18. 18. Class notes Internet
  • DrRoyChristo

    Jul. 7, 2021
  • princenuman51

    Jul. 4, 2021
  • RuthMoraa6

    May. 3, 2021
  • sukanyaradhakrishnan

    Apr. 14, 2021
  • AyeshaWaqar11

    Jan. 16, 2021
  • AanuGupta

    Oct. 22, 2020
  • 8753084084

    May. 15, 2020
  • ayeshajabeen12

    Feb. 5, 2020
  • MandeepChauhan13

    Feb. 2, 2020
  • HunainIftikhar2

    Jan. 31, 2020
  • RakeshSharma185

    Jan. 25, 2020
  • RohiniVamane

    Nov. 27, 2019
  • ssusera45020

    Nov. 18, 2019
  • ChandanaVishwanath

    Nov. 13, 2019
  • LegnaInirah

    Oct. 13, 2019
  • MrNauman1

    Oct. 5, 2019
  • DevKumar211

    May. 20, 2019
  • jyothiroy

    Mar. 29, 2019
  • MohamedRashed73

    Nov. 19, 2018
  • liuqman520

    Nov. 8, 2018

Important lipid storage diseases


Total views


On Slideshare


From embeds


Number of embeds