Glycogen storage diseases are inherited metabolic disorders.

Metabolism is a mechanism to supply energy to the body and various enzymes are associated with it. Types of GSD are classified based on the deficiency of any of the enzymes associated with it. I. GSD type 1a caused due to mutation at loci 17q21 leading to the deficiency of true enzyme glucose 6 phosphatase(G6Pase) and GSD type 1b due to mutation at loci 11q23 leading to the deficiency of glucose 6 phosphate transporter(G6PT). (Chou JY et al,2002).

Type of GSD Ia (Von Gierke Disease) Ib III. VIII. XIII. XVIII. XXIII. XXVIII. XXXIII.

Gene Mutation 17q21

Deficiency Glucose 6 phosphatas e Glucose 6 Phospahte transporter V. X.

Diagnostic Tests II.

Results

11q23

IV. IX. XIV. XIX. XXIV. XXIX.

VI. XI. XVI. XXI. XXVI. XXXI.

VII. XII. XVII. XXII. XXVII. XXXII.

XV. XX. XXV. XXX.

.

Raben N Friedrich-Baur Institute. Munich.Gsd 2 Schoser B. Germany . Ludwig Maximilians University Munich. Hill V. Department of Neurology.

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