English Physician and neuroscientist

McArdles disease, also called Glycogenosis Type V, rare hereditary deficiency of the enzyme glycogen phosphorylase in muscle cells. muscles cannot break down glycogen to meet the energy requirements of exercise. Muscle activity is thus solely dependent on the availability of glucose (blood sugar) and other nutrients in the circulating blood. the disease is not fatal, and the missing enzyme does not impair the functioning of other body systems. McArdles disease is inherited as an autosomal recessive trait.

Cause: Myophosphorylase deficiency

Affected tissue: Muscle Disease Characteristics

Exercise intolerance Non-progressive weakness in one-third of affected individuals In some individuals, progressive weakness manifests in the 6th or 7th decade of life

Diagnosed by clinical findings The diagnosis is confirmed by a muscle biopsy, which shows an excess of glycogen and absence of the muscle enzyme phosphorylase. Confirmatory Laboratory test:

Laboratory findings:
forearm test

Assay of myophosphorylase enzyme activity Molecular genetic testing of PYGM

Increased resting serum creatine kinase concentration No change in plasma lactate concentration on the

No specific treatment exists.

Avoid strenuous (anaerobic or sustained) exercise, including lifting or pushing. Ingestion of sucrose improves exercise tolerance and may protect against exerciseinduced rhabdomyolysis

a Belgian physiologist and biochemist

hereditary deficiency of the liver enzyme glycogen phosphorylase, which governs the metabolic breakdown of glycogen to the simple sugar glucose, which can then be used to meet the bodys energy needs. The enzymes absence causes glycogen to accumulate, greatly enlarging the liver and producing moderate hypoglycemia (low blood sugar), since the release of glucose from storage in the liver is impaired. Other symptoms of the disease are a mild increase in the acidity of the blood and growth retardation. No other organs seem to be involved. Unlike some of the related glycogen storage diseases, Hers disease does not cause mental retardation or reduce the life span.

Affected enzyme: Liver phosphorylase.

Affected tissues: Liver Disease Characteristics:
Most common variant is X-linked therefore usually affects

only males. Hepatomegaly, hypoglycemia, growth retardation, hyperlipidemia.

Molecular genetic testing of PYGL is the preferred method of diagnosis

Treatment of manifestations:
For hypoglycemia: small frequent meals with

uncooked cornstarch one to three times a day For those with no hypoglycemic episodes: bedtime dose of cornstarch can improve energy and well-being Prevention of primary manifestations:
Hepatomegaly and hypoglycemia may be prevented by administration of cornstarch one to three times a day

Prevention of secondary complications:

Short stature, delayed puberty, and osteoporosis improve with better metabolic control

a defect of glycolysis in muscles and erythrocytes caused by abnormalities in the muscle phosphofructokinase gene that results in a deficiency of the phosphofructokinase enzyme. This enzyme deficiency leads to a reduced amount of energy available to muscles during exercise. GSD VII is inherited as an autosomal recessive genetic disorder.

Japanese physician and neurologist

Cause: Phosphofructokinase (PFK) deficiency

Affected tissue: Muscle Clinical features:

Exercise intolerance, muscle cramping, exertional myopathy, compensated haemolysis and myoglobinuria.

Note : Symptoms can be similar to McArdle's Glycogen Storage Disease but more severe.

1. Background phosphofructokinase (PFK) transforms fructose-6-phosphate to fructose-1,6-diphosphate muscle PFK is a homogeneous tetramer containing only the M subunit while erythrocyte PFK is a heterogeneous tetramer containing both M and L (liver) subunits 2. Genetic Defect mutation of PFK gene -> abnormal M subunit -> abnormal PFK protein -> inability of muscle and erythrocytes to breakdown glucose to pyruvate or lactate a congenital absence of the M subunit results in:
muscle - myopathy erythrocytes - causes a hemolytic tendency which produces reticulocytes

an unstable M subunit may be associated with the late appearance of a myopathy

and a mild polycythemia and increases the production of bilirubin to cause a recurrent jaundice

Laboratory Studies Serum creatinine kinase values are usually increased Lactic acid does not increase following exercise Bilirubin levels may be elevated Reticulocyte count and reticulocyte distribution width may be increased Urinalysis may reveal myoglobinuria, especially after exercise Imaging studies Brain imaging may show cortical atrophy and ventricular dilation Phosphorous 31-nuclear magnetic resonance spectroscopy of calf muscle using a 4.7 Tesla MRI maybe useful in making this diagnosis

Special medical treatment is not required Patients are advised to avoid highcarbohydrate meals because they may exacerbate the exercise intolerance