[McArdle's disease: a case report].

Abstract:

:This disease was described by McArdle as an inherited autosomal recessive affection characterized by glycogen storage with normal chain in the skeletal muscles, due to absence of myophosphorylase activity. Under a clinical aspect, excessive fatigability, cramps and myoglobinuria appear following physical exercise. A case of this disease in a 36-year-old male patient is reported. Failure of elevation of venous blood lactate after physical effort under anaerobic conditions, as well as muscle histochemistry, made diagnosis confirmation possible. The authors comment on the differential diagnosis between McArdle's disease and the other causes of myoglobinuria, specially phosphofructokinase and carnitine-palmityl-transferase deficiency.

journal_name

Arq Neuropsiquiatr

authors

Levy JA,Gagioti SM,Cavalieri MJ,Pereira JR

doi

10.1590/s0004-282x1980000400012

subject

Has Abstract

pub_date

1980-12-01 00:00:00

pages

411-4

issue

4

eissn

0004-282X

issn

1678-4227

journal_volume

38

pub_type

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