“…There is evidence in bath men and pigs that suscentibility to' the conditian is transmitted as an autosO'mal daminant factar shawing variable penetrance (DenbO'rO'ugh et al. 1962;Hall et aI., 1966;Britt et aI., 1969;Harrison et al, 1969;Isaacs and Barlow, 1970;Jones ct af., 1972;Larard et al, 1972).…”
Section: Discussionmentioning
confidence: 94%
“…1972). In man, although serum-CPK levels may be elevated with a number of muscular conditions, far example, tissue trauma and certain myopathies (Ne.wson, 1972), high levels of this enzyme in asymptomatic patients suggest that these individuals are susceptible to malignant hyperthermia if undergoing general anaesthesia (Denborough et al, 1970b;Isaacs and Barlow, 1970;Newson, 1972).…”
“…There is evidence in bath men and pigs that suscentibility to' the conditian is transmitted as an autosO'mal daminant factar shawing variable penetrance (DenbO'rO'ugh et al. 1962;Hall et aI., 1966;Britt et aI., 1969;Harrison et al, 1969;Isaacs and Barlow, 1970;Jones ct af., 1972;Larard et al, 1972).…”
Section: Discussionmentioning
confidence: 94%
“…1972). In man, although serum-CPK levels may be elevated with a number of muscular conditions, far example, tissue trauma and certain myopathies (Ne.wson, 1972), high levels of this enzyme in asymptomatic patients suggest that these individuals are susceptible to malignant hyperthermia if undergoing general anaesthesia (Denborough et al, 1970b;Isaacs and Barlow, 1970;Newson, 1972).…”
“…Previous family studies show that susceptible patients suffer from a myopathy which is usually dominantly inherited and often manifested only by a raised resting serum creatinine phosphokinase (C.P.K.) level (Isaacs and Barlow, 1970;King et al, 1972). Until recently the serum C.P.K.…”
“…Some familiar examples include: plasma CK elevation from muscle in patients and carriers of Duchenne dystrophy (sex-linked recessive) [118][119][120] or malignant hyperthermia (autosomal dom inant) [120][121][122]; plasma acid phosphatase increase originating from glucoceribrosiderich reticuloendothelial (Gaucher) cells in Gaucher's disease (autosomal recessive) [123,124]; LD anodal isoenzyme elevation from erythrocyte haemolysis in sickle cell anaemia (autosomal recessive) [125][126][127], and reduced pancreatic isoamylase activity in plasma as a consequence of pancreatic aci nar destruction in fibrocytic disease of the pancreas (autosomal recessive) [32,128]. …”
Section: Genetic Disease As a Cause Of Plasma Enzyme Alterationmentioning
Genetic factors which may influence the activity of diagnostic enzymes in
plasma are reviewed. Examples are given of the effects of race, blood group, enzyme polymorphisms,
genetic variants, inborn errors and inherited disease.
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