Neurology Specific Literature Search   
 
[home][thesaurus]
    
Click Here to return To Results

 

Adult Phosphorylase b Kinase Deficiency
Ann Neurol 28:529-538, Clemens,P.R.,et al, 1990
See this aricle in Pubmed

Article Abstract
Phosphorylase b kinase deficiency affecting muscle has been observed infrequently in children with weakness and hepatomegaly,and in two adults with cramps on exertion.We observed 2 additional adults with phosphorylase b kinase deficiency:Patient 1,aged 58,had progressive,predominantly distal weakness since age 46 but no cramps on exertion;Patient 2,aged 26,had cramps on exertion since age 6 but no weakness.Lactate production on ischemic exercise was impaired only in Patient 1.The serum creatinine kinase level was elevated in both.Muscle specimens showed focal glycogen excess in both,and a necrotizing myopathy and mild denervation atrophy in Patient 1.Muscle phosphorylase b kinase activity was 0.5%and 8.9%of the lowest control value in Patient 1 and 2 respectively;erythrocyte phosphorylase b kinase activity was normal in both;liver phosphorylase b kinase activity,measured in patient 1,was also normal.Other glycolytic enzymes in muscle were preserved in both.
 
Related Tags
(click to filter results - removes previous filter)

creatine phosphokinase(CPK)elevated
enzyme,defect
enzyme,muscle disease
exercise
glycogen storage disease
muscle biopsy
muscle cramp
muscle pain
muscle weakness
myopathy
myopathy,distal,vacuolar
myopathy,necrotizing
myopathy,vacuolar
phosphorylase b kinase deficiency
weakness,progressive

Click Here to return To Results