| 释义 |
familial paroxysmal rhabdomyolysis a·cute re·cur·rent rhab·do·my·ol·y·sis [MIM*268200] repeated paroxysmal attacks of muscle pain and weakness followed by passage of dark red-brown urine, often precipitated by intercurrent illness and diagnosed by demonstration of myoglobin in the urine; it is attributed to abnormal phosphorylase activity in skeletal muscle, but there may be more than one biologic type; probably autosomal recessive inheritance. In some cases, at least, there is deficiency of carnitine palmitoyl transferase. Synonym(s): familial paroxysmal rhabdomyolysisfamilial paroxysmal rhabdomyolysis (1) Acute recurrent rhabdomyolysis (see there), OMIM:268200.
(2) Glycogen storage disease V (see there), OMIM:232600. |