McArdle disease


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Related to McArdle disease: Hers disease, Tarui disease

McArdle disease

 [mik-ar´d'l]
glycogen storage disease (type V), a condition in which deficiency of muscle phosphorylase results in accumulation of glycogen in skeletal muscles, with muscle cramps and a depressed blood lactate level during exercise. Called also myophosphorylase deficiency glycogenosis.

gly·co·ge·no·sis type 5

(glī'kō-jĕ-nō'sis tīp)
Disorder due to muscle glycogen phosphorylase deficiency, resulting in accumulation of glycogen of normal chemical structure in muscle tissue.
Synonym(s): McArdle disease, McArdle-Schmid-Pearson disease.

McArdle disease

(mak-ard'il)
[Brian McArdle, Brit. pediatrician, 1911–2002]
A glycogen storage disease caused by deficient myophosphorylase B (a muscle phosphorylase.)
Synonym: glycogen storage disease type V; muscle phosphorylase deficiency

McArdle,

Brian, English neurologist, d. 2002.
McArdle disease - Synonym(s): McArdle syndrome
McArdle syndrome - glycogenosis due to muscle glycogen phosphorylase deficiency, resulting in accumulation of glycogen of normal chemical structure in muscle. Synonym(s): Cori syndrome; McArdle disease; McArdle-Schmid-Pearson syndrome; type 5 glycogenosis
McArdle-Schmid-Pearson disease - Synonym(s): McArdle syndrome
References in periodicals archive ?
1) Since then several cases of McArdle disease have been reported with different presentations.
Her biopsy revealed multifocal rhabdomyolysis with myofiber necrosis and absence of phosphorylase staining consistent with McArdle disease (type V glycogenosis) (Fig.
Following the diagnosis, a nutritionist was consulted, who stated that diet had no role in the patient's McArdle disease.
carried out the test on a healthy subject according to the method of Threatte and Henry (2), who describe the procedure as follows: "Laboratory diagnosis of McArdle disease is made by applying a blood pressure cuff on an exercising forearm and sampling blood lactate one minute after the exercise has begun".