Gsd Type Ii Acid Maltase Or Acid aGlucosidase Deficiency Pompe Disease

GSD II is caused by a deficiency of lysosomal acid a-glucosidase (GAA; acid maltase), an enzyme responsible for the degradation of glycogen engulfed in autophagic lysosomal vacuoles (OMIM 232300). Three different

Table 1 Glycogen storage diseases: Distinct types and diagnosis

Inheritance, chromosomal

Disorder Enzyme defect/deficiency localization, and gene

Table 1 Glycogen storage diseases: Distinct types and diagnosis

Inheritance, chromosomal

Disorder Enzyme defect/deficiency localization, and gene

Type Ia (Von Gierke)

Glucose-6-phosphatase

ARa, 17q21, Gene: G6PC

Type Ib

Glucose-6-phosphate translocase

AR, 11q23, Gene: G6PT1

Type II (Pompe) Infantile

Acid a-glucosidase (acid maltase)

AR, 17q25.2-25.3, Gene: GAA

Juvenile

Acid a-glucosidase (acid maltase)

AR, 17q25.2-25.3, Gene: GAA

Adult

Acid a-glucosidase (acid maltase)

AR, 17q25.2-25.3, Gene: GAA

Type IIIa (Cori or Forbes)

Liver and muscle debrancher deficiency

AR, 1p21, Gene: AGL

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

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