Acid maltase deficiency

Introduction: Acid maltase deficiency

Description of Acid maltase deficiency

Acid maltase deficiency (medical condition): A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down. See also Glycogen storage disease type 2:
  »Introduction: Glycogen storage disease type 2
  »Symptoms of Glycogen storage disease type 2

Acid maltase 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

Acid maltase deficiency: Rare Disease

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

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

Ophanet

Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Acid maltase deficiency as a "rare disease".

Source - Orphanet

Acid maltase deficiency as a Disease

Acid maltase 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

Symptoms of Acid maltase deficiency (Glycogen storage disease type 2)

Some of the symptoms of Acid maltase deficiency incude:

• Reduced muscle tone
• Hypertrophic cardiomyopathy
• Difficulty swallowing
• Failure to thrive
• Enlarged liver

See full list of 31 symptoms of Acid maltase deficiency (Glycogen storage disease type 2)

Terms associated with Acid maltase deficiency:

Terms Similar to Acid maltase deficiency:

• Alpha-1, 4-Glucosidase deficiency
• Glycogen storage disease type 2
• Pompe's disease
• Glycogenosis type 2

Source: Diseases Database

• AMD (Acid maltase deficiency)
• Alpha-1,4-glucosidase deficiency
• Cardiac form of generalized glycogenosis
• Cardiomegalia glycogenica diffusa
• Glycogen storage disease 2
• Pompe disease

Source - NIH

The following terms can be used for Acid maltase deficiency

• glycogen storage disease type II

Source: CRISP

External links related to: Acid maltase deficiency

• OMIM - GLYCOGEN STORAGE DISEASE II
• eMedicine - Glycogen-Storage Disease Type II : Article by Jennifer Ibrahim, MD
• eMedicine - Glycogen Storage Disease, Type II : Article by Wayne E Anderson, DO

Source: Diseases Database

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