Myophosphorylase deficiency

Introduction: Myophosphorylase deficiency

Description of Myophosphorylase deficiency

Myophosphorylase deficiency (medical condition): A rare inherited glycogen storage disorder involving a deficiency of muscle phosphorylase needted to convert glycogen to glucose in the muscles.

See also:

McArdle disease:
  »Introduction: McArdle disease
  »Symptoms of McArdle disease
  »Treatments for McArdle disease

Myophosphorylase deficiency: Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise.
Source: Diseases Database

Myophosphorylase deficiency: Related Topics

These medical condition or symptom topics may be relevant to medical information for Myophosphorylase deficiency:

• Myophosphorylase
• Deficiency

Myophosphorylase deficiency: Rare Disease

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

Myophosphorylase deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Myophosphorylase deficiency, or a subtype of Myophosphorylase 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 Myophosphorylase deficiency as a "rare disease".

Source - Orphanet

Myophosphorylase deficiency as a Disease

Myophosphorylase deficiency: Another name for McArdle disease (or close medical condition association).
  »Introduction: McArdle disease
  »Symptoms of McArdle disease
  »Treatments for McArdle disease

Symptoms of Myophosphorylase deficiency (McArdle disease)

Some of the symptoms of Myophosphorylase deficiency incude:

• Muscle cramps after exercise
• Myoglobin in urine
• Reduced muscle phosphorylase activity
• Absent muscle phosphorylase activity
• Myoglbin in urine

See full list of 16 symptoms of Myophosphorylase deficiency (McArdle disease)

Treatments for Myophosphorylase deficiency (McArdle disease)

Treatments for Myophosphorylase deficiency (McArdle disease) include:

• Eating sucrose before exercising may improve the patients tolerance to exercise and reduce the risk of muscle damage

Read more about treatments for Myophosphorylase deficiency

Treatment of Myophosphorylase deficiency: For more treatment information about Myophosphorylase deficiency, see treatment of McArdle disease (Myophosphorylase deficiency)

Myophosphorylase deficiency: Related Disease Topics

These medical disease topics may be related to Myophosphorylase deficiency:

• Von Gierke's disease
• Pompe's disease
• hyperlipidemia
• hepatomegaly
• hypoglycaemia
• hers disease
• Anderson disease
• Cori's disease

Terms associated with Myophosphorylase deficiency:

Terms Similar to Myophosphorylase deficiency:

• Glycogenosis type 5
• Glycogen storage disease type 5
• McArdle's disease
• Muscle phosphorylase deficiency

Source: Diseases Database

• PYGM deficiency
• McArdle disease
• Glycogen storage disease V
• Muscle glycogen phosphorylase deficiency

Source - NIH

The following terms can be used for Myophosphorylase deficiency

• glycogen storage disease type V

Source: CRISP

External links related to: Myophosphorylase deficiency

• eMedicine - Glycogen Storage Disease, Type V : Article by Wayne E Anderson, DO
• OMIM - GLYCOGEN STORAGE DISEASE V
• eMedicine - Glycogen-Storage Disease Type V : Article by Melissa Wasserstein, MD
• Pharmacological and nutritional treatment for McArdle's disease (Glycogen Storage Disease type V) (Cochrane Review)
• McArdle's disease (www.whonamedit.com)

Source: Diseases Database

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