A new metabolic muscle disease due to abnormal hexokinase activity.

A new metabolic muscle disease due to abnormal hexokinase activity.

A 34 year old man presented with an 8 year history of mild muscle pain and stiffness on exertion especially in the cold. Clinical examination was normal. Apart from a mild persistent leucocytosis, his routine investigations were normal including creatine kinase activity, electromyography and nerve conduction studies. An ischaemic exercise test produced a slow and incomplete rise in lactate. His...

Nerve compression due to an abnormal muscle.

A muscle, 7.5 c.m. long and 1.4 c.m. wide at its thickest part lay just inferior to the piriformis muscle on both sides of the lower limb. It was not part of the piriformis muscle as it originated from the lower margin of the greater sciatic notch and inserted into the greater trochanter of femur just posterior to the piriformis. (Piriformis muscle originated from the pelvis surface of the 2nd,...

Hereditary Metabolic Myopathy with Paroxysmal Myoglobinuria Due to Abnormal Glycolysis.

Chronic granulomatous disease due to granulocytes with abnormal NADPH oxidase activity and deficient cytochrome-b.

A patient with an X-linked genetic disease resembling chronic granulomatous disease (CGD) but differing in several aspects from previously studied cases is described. The oxidase enzyme of the patient's granulocytes was normally activated, but had reduced activity as shown by an increased Michaelis constant and decreased maximum velocity of NADPH-dependent superoxide production. Cytochrome-b wa...

Hereditary nonspherocytic hemolytic anemia due to a new hexokinase variant with reduced stability.

A 27-year-old woman with severe chronic hemolytic anemia was found to have reduced red cell hexokinase activity when the degree of reticulocytosis was considered. This enzyme had normal pH-dependent activity, normal Km for glucose, fructose, and mannose, normal Km for Mg adenosine triphosphate (ATP)2- and Ki for glucose-1,6-diphosphate. Furthermore, the pH-dependence and orthophosphate dependen...