A 14 year female on strenuous exercise presented with muscle pains, and voiding red colored urine. The diagnosis is
(A) Glycolytic pathway defect # Disorders of Glycolysis Causing Exercise Intolerance Several glycolytic defects are associated with recurrent myoglobinuria: myophosphorylase deficiency (type V glycogenosis), phosphofructokinase deficiency (type VII glycogenosis), phosphoglycerate kinase deficiency (type IX glycogenosis), phosphoglycerate mutase deficiency (type X glycogenosis), lactate dehydrogenase deficiency (glycogenosis type XI), and beta-enolase deficiency. Clinical muscle manifestations in these conditions usually begin in adolescence. Symptoms are precipitated by brief bursts of high-intensity exercise, such as running or lifting heavy objects. A history of myalgia and muscle stiffness usually precedes the intensely painful muscle contractures, which may be followed by myoglobinuria. Acute renal failure accompanies significant pigmenturia.> Carnitine Palmitoyltransferase Deficiency In contrast to disorders caused by defects in glycolysis, in which muscle cramps follow short, intense bursts of exercise, the muscle pain in CPTII deficiency does not occur until the limits of utilization have been exceeded and muscle breakdown has already begun.> Hypokalemic Periodic Paralysis (HypoKPP) Men are more often affected because of decreased penetrance in women. Attacks are often provoked by meals high in carbohydrates or sodium and may accompany rest following prolonged exercise. Weakness usually affects proximal limb muscles more than distal. Ocular & bulbar muscles are less likely to be affected. Mitochandrial myopathies more often affect ocular muscles.
Glycolytic pathway defect
Carnitine acyltransferase deficiency
Mitochondrial deficiency myopathy
Hypokalemic periodic paralysis
Miscellaneous