TY - JOUR
T1 - Carnitine palmityl transferase deficiency
T2 - Clinical variability, carrier detection, and autosomal-recessive inheritance
AU - Angelini, Corrado
AU - Freddo, Lorenza
AU - Battistella, Pierantonio
AU - Bresolin, Nereo
AU - Pierobon-Bormioli, Sandra
AU - Armani, Mario
AU - Vergani, Ludovica
PY - 1981
Y1 - 1981
N2 - A 21-year-old man had recurrent myoglobinuria; his 28-year-old sister had symptoms of fatigability. During prolonged fasting, serum free fatty acid rose in both siblings, but only the sister produced ketone bodies and had elevated creatine phosphokinase activity. Carnitine palmityl transferase (CPT) activity was less than 30% of normal in muscle and platelets. Liver biopsy disclosed a low level of the enzyme in the brother. The parents had intermediate levels of the enzyme in platelets. CPT deficiency seems to have an autosomal-recessive pattern of inheritance and a variable phenotypic expression.
AB - A 21-year-old man had recurrent myoglobinuria; his 28-year-old sister had symptoms of fatigability. During prolonged fasting, serum free fatty acid rose in both siblings, but only the sister produced ketone bodies and had elevated creatine phosphokinase activity. Carnitine palmityl transferase (CPT) activity was less than 30% of normal in muscle and platelets. Liver biopsy disclosed a low level of the enzyme in the brother. The parents had intermediate levels of the enzyme in platelets. CPT deficiency seems to have an autosomal-recessive pattern of inheritance and a variable phenotypic expression.
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M3 - Article
C2 - 7195512
AN - SCOPUS:0019444509
SN - 0028-3878
VL - 31
SP - 883
EP - 886
JO - Neurology
JF - Neurology
IS - 7
ER -