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 Missouri Resident Poster Competition 1999 Manisha S. Patwardhan M.D.
St. Luke’s Medical Center McArdle’s disease is a disorder of carbohydrate metabolism in
which there is a deficiency of myophosphorylase enzyme. Clinical
picture is characterized by exercise intolerance with muscle pain,
stiffness and weakness during strenuous activity. Serum
creatinine-phosphokinase at rest is variable increased and myoglobin
may be found in urine. Diagnoses is confirmed by muscle biopsy with
specific enzyme histochemistry showing absence of phosphorylase
activity. We present a 34 year old parole officer who presented to the E.R.
with generalized myalgia and passing dark colored urine.
Exam-non-focal. Lab data- BUN-119, creatinine-11.8, K-4.9, LDH-1473,
total CK-21, 107. Urine analysis- Blood 3+, RBC-3-5. Renal
ultrasound – bilaterally large kidneys with no focal mass lesion
or hydronephrosis. Patient improved with vigorous I.V. hydration
with his creatinine decreasing to 1.6, BUN – 27, LDH-301, total
CK-2430 twelve days later. Patient had a muscle biopsy for repeated
episodes of myalgia and myoglobinuria after vigorous activities
which showed myophosphorylase deficiency consistent with the
diagnosis of McArdle’s disease. This disease has an autosomal recessive pattern of inheritance.
Avoiding vigorous activity needs to be emphasized to the patients to
prevent muscle necrosis following prolonged, severe exercise. I.V.
infusion of glucose, fructose, glucagon or sublingual isoproterenol
have been suggested but none are of therapeutic value in the long
term management. |
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