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Paediatric

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Metabolic Diseases

Question
1 out of 4
 

In Gaucher's disease there is accumulation of Inside the cell (AIPG 2009)



A Galactosidases
B Hexosaminidase

C Glucosidases
D Cerebrosides

Ans. D

Cerebroside

Lysosomal storage diseases

a. Lysosomes are key components of the intracellular digestive tract.

b. They contain a battery of hydrolytic enzymes.

c. These hydrolytic en4lmes catalyze the breakdown of a variety of complex macromolecules.

d. With an inherited deficiency of a functional lysosomal enzyme, catabolism of its substrate remains incomplete, leading to accumulation of the paxtiatly degaded insoluble metabolite within the lysosomes.

e. Stuffed with incompletely digested macromolecules, these organelles become large and numerous enough to interfere with normal cell functions, giving rise to the lysosomal storage disorders.

lmportant lysosomal storage diseases

Disease

Deficient enzyme

Accumulating metabolites

Sphingolipidoses

o GM gangliosidosis

o GM, gangliosidosis

i) Tay-sachs disease

ii) Sandoff disease

B-galactosidase

Hexosaminidase - subuuit

Hexosaminidase

GM, ganglioside

Gm, ganglioside

GM, ganglioside

Glycogenosis type II

o Pompe disease

1,4, glucosidase

Glycogen

Mycopolysaccharidose

MPS I (Hunter)

MPS II (Hunter)

Scheie syndrome

l, Iduranidase

Induronate sulfatase

Sulfo iduranate s ul fatase

Dermatan sulfate

Heparan sulfate

Sulfatidoses

o Metachromatic leukodystropfry

o Krabbe,disease

o Gaucher disease

o Fabry's disease

o Niemann Pick disease

Arylsulfatase

Galactosylceramidase

Glucocerebrosidase

Gafaatsiiease A

Sphingomyelinase

Sulfatide

Galtocerebroside

Glucocerebroside

Cerarnide trihoxoside

Sphingomvelin

Others

o Walman disease

Acid lipase

Cholesterol ester,, triglyceridb