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Paediatric

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Metabolic Diseases

Question
2 out of 5
 

All are liver glycogenosis except- (AIIMS Nov 2012)



A Von Girke disease
B Hers disease

C Type III glycogenosis
D Pompes disease

Ans. D

Pompes disease

lmportant Glycogen Storage disease

Liver glycogenoses Muscles glycogenoses

Disorders with hepatomegaly Disorders with Disorders with muscle Disorders with progressive and hypoglycemia Liver: cirrhosis energy impairment skeletal myopathy and / or cardiomyopathy

Type

Name

Enzyme defect

Type I

Type III

Type VI

Type IX

Type XI

Von Girke

Cori/Forbe Limit dexirinosis

Hers

Phosphory1 ase kinase deficiency

Fancon/ Bickel

Glucose 6 –Phosphatase

Debranching enzyme (Liver and / or muscle)

Liver phosphorylase

Phosphoryl kinase

Glucose transporter-2

Type

Name

Enzyme defect

Type IV

Andersons

Branching enzyme

Type

Name

Enzyme defect

Type V

Type VII

Mc Ardle

Tarui

Muscle phosphorylase

Phosphofructokinase

Type

Name

Enzyme defect

Type II

Pompes

Lysosomal acid glucosidase