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Dictionary » Alpha 1,4 glucosidase deficiency
 

Alpha 1,4 glucosidase deficiency

Introduction: Alpha 1,4 glucosidase deficiency

Description of Alpha 1,4 glucosidase deficiency

Alpha 1,4 glucosidase deficiency (medical condition): A rare inherited biochemical disorder involving the harmful...more »

See also:

Glycogen storage disease type 2:
  »Introduction: Glycogen storage disease type 2
  »Symptoms of Glycogen storage disease type 2

Alpha 1,4 glucosidase deficiency: An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE DEFICIENCY. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)
Source: Diseases Database

Alpha 1,4 glucosidase deficiency: Related Topics

These medical condition or symptom topics may be relevant to medical information for Alpha 1,4 glucosidase deficiency:

Alpha 1,4 glucosidase deficiency: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Alpha 1,4 glucosidase deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Alpha 1,4 glucosidase deficiency, or a subtype of Alpha 1,4 glucosidase deficiency, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Alpha 1,4 glucosidase deficiency as a Disease

Alpha 1,4 glucosidase deficiency: Another name for Glycogen storage disease type 2 (or close medical condition association).
  »Introduction: Glycogen storage disease type 2
  »Symptoms of Glycogen storage disease type 2

Alpha 1,4 glucosidase deficiency: Related Diseases

Alpha 1,4 glucosidase deficiency: Alpha 1,4 glucosidase deficiency is listed as a type of (or associated with) the following medical conditions in our database:

Symptoms of Alpha 1,4 glucosidase deficiency (Glycogen storage disease type 2)

Some of the symptoms of Alpha 1,4 glucosidase deficiency incude:

Alpha 1,4 glucosidase deficiency: Related Disease Topics

These medical disease topics may be related to Alpha 1,4 glucosidase deficiency:

Terms associated with Alpha 1,4 glucosidase deficiency:

Terms Similar to Alpha 1,4 glucosidase deficiency:

Source: Diseases Database

Source - NIH

The following terms can be used for Alpha 1,4 glucosidase deficiency

Source: CRISP

External links related to: Alpha 1,4 glucosidase deficiency

Source: Diseases Database

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