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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.

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(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

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