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Lipidoses

There is an inherited deficiency of a lysosomal hydrolase leading to the lysosomal accumulation of the enzyme specific sphingolipid substrate.

 

Progressive lysosomal accumulation of glycosphingolipid in the central nervous system leads to

Neuro degeneration where as storage in visceral cells leads to organomegaly and skeletal abnormalities.
 

Disease

Enzyme def.

GM gangliosidosis

Tay sachs

Sand hoff

Neimann Pick

Gaucher

Fabrys

β-Galactosidase

β-Hexa aminodaseA

β-Hexosaminadase A and B

Sphingomyelinase

β-glucosidase

α-glactosidase

  1. GM Gangliosidase
    1. Evident in the newborn as hepatosplenomegaly , edema skin eruptions and typical facies.
    2. At 6 mths developmental arrest followed by progressive psychomotor retardation and onset of tonic clonic seizures
    3. By the end of 1st year most of the children are blind and deaf
  2. Tay Sachs Disease
    1. Present in infancy with loss of motor skills, increased startle reaction, macrocephaly and cherry red spot. Pts. Having neuro developmental regression and convulsion. 
  3. Sandoff Disease
     
    Having clinical manifestation similar to those of Tay Sachs disease except infants with sand off disease have hepatosplenomegaly
  4. Gauchers Disease
     
    It is the most common lysosomal storage disease  

Characterized by

  1. Hematologic Problem
    1. Anemia-fatigue            
    2. Thrombocytopenia easy bruisability
  2. Organomegaly
  3. Skeletal involvement usually manifested as bone pain and pathological #

Erlenmyer flask deformity of distal femurQ

 

The Pathological hallmark of Gauchers disease is the Gaucher cell in the reticulo endothelial system. These cells have wrinkled appearance and PAS +veQ

  1. Niemann Pick Disease
    1. Deficient activity of sphingomyelinaseQ results in the pathologic accumulation of sphingomyelin
    2. Six subtypes of NPD (autosomal recessive traits)
    3. Type B, is a non-neuropathic formQ
    4. Characterized by a normal appearance at birth (except prolonged jaundice)
    5. Hepatosplenomegaly, moderate lymphadenopathy, and psychomotor retardation are evident by 6 mo of age, followed by neurodevelopmental regression.
    6. Type B NPD have pulmonary involvement
    7. Cherry red maculae or haloes
    8. Zebra bodies
    9. Diagnosis by measuring the sphingomyelinase activity level in peripheral leukocytes,
    10. No specific treatment for NPD. Orthotopic liver transplantation  
  2. Fabry Disease
     
    X-Linked recessiveQ
    1. AngiokeratomasQ                 
    2. Hypohidrosis
    3. Corneal and lenticular opacities    
    4. Acroparesthesias  
    5. Vascular disease of kidney, heart and brain.

Rx-Phenytoin and carbamazepin have been shown to decrease the frequency and severity of the chronic acroparesthesias.

 

Clinical features of common lysosomal storage disorders

Disorder

Cherry-red spot

Visceromegaly

Skeletal lesions

Mental retardation

Bulbar signs

Gangliosidosis GM1

+

+

+

+

-

Gaucher disease

-

+

+

+

+

Krabbe disease

-

-

-

+

-

Metachromatic leukodystrophy

+

-

-

+

-

Multiple sulfatase deficiency

+

+

+

+

-

Niemann –Pick disease

+

+

-

+

-

Sandhoff disease

+

+

+

-

-

Tay-Sachs disease

+

-

-

+

-





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