Summary
A 18-year-old man had recurrent myoglobinuria following exercise and fasting. His parents originated from the same village, which had less than 1000 inhabitants. His 53-year-old father suffered from similar episodes, whereas his mother and elder brother were symptom free. Biochemical investigations on muscle and platelets disclosed carnitine palmityl transferase (CPT) deficiency in the patient and his father. His mother and brother showed intermediate CPT values consistent with their being heterozygotes. This appears to be the first report of CPT deficiency with recurrent myoglobinuria in two generations (so-called quasidominant transmission).
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Angelini C, Freddo L, Battistella P, Bresolin N, Pierobon-Bormioli S, Armani M, Vergani L (1981) Carnitine palmityl transferase deficiency: clinical variability, carrier detection, and autosomal recessive inheritance. Neurology 31:883–886
Blass JP, Cederbaum SD, Kark RAP (1977) Rapid diagnosis of pyruvate ketoglutarate dehydrogenase deficiencies in platelet enriched preparations from blood. Clin Chim Acta 75:21–30
DiDonato S, Castiglione A, Rimoldi M, Cornelio F, Vendemia F, Cardace G, Bertagnolio B (1981) Heterogeneity of carnitine-palmitoyltransferase deficiency. J Neurol Sci 50:207–215
DiMauro S, Bresolin N (1986) Phosphorylase deficiency. In: Engel AG, Banker BQ (eds) Myology. Basic and clinical. McGraw-Hill, New York, pp 1585–1601
DiMauro S, Melis DiMauro PM (1973) Muscle carnitine palmityltransferase deficiency and myoglobinuria. Science 182:929–930
DiMauro S, Papadimitriou A (1986) Carnitine palmitoyltransferase deficiency. In: Engel AG, Banker BQ (eds) Myology. Basic and clinical. McGraw-Hill, New York, pp 1697–1708
Doriguzzi C, Mongini T, Palmucci L, Schiffer D (1983) A new method for myofibrilliar Ca+--ATPase reaction based on the use of metachromatic dyes: its advantages in muscle fibre typing. Histochemistry 79:289–294
Jennekens FGI, Scholte HR, Stinis JT, Luyt-Houwen IEM (1981) Carnitine palmitoyltransferase deficiency: variations in clinical expression, differences between CPT I and II and mode of inheritance. In: Busch HFM, Jennekens FGI, Scholte HR (eds) Mitochondria und muscular diseases. Mefar, Beetsterwaag, pp 213–217
Kieval RJ, Sotrel A, Weinblatt ME (1989) Chronic myopathy with a partial deficiency of the carnitine palmityltransferase enzyme. Arch Neurol 46:575–576
Meola G, Bresolin N, Rimoldi M, Velicogna M, Fortunato F, Scarlato G (1987) Recessive carnitine palmityl transferase deficiency: biochemical studies in tissue cultures and platelets. J Neurol 235:74–79
Norum K (1984) Palmityl-CoA: carnitine palmityl transferase. Biochim Biophys Acta 89:95–108
Palmucci L, Bertolotto A, Doriguzzi C, Mongini T, Ardizzone G (1981) Myoglobinuria: presentation of personal cases and review of the literature. Ital J Neurol Sci 3:275–282
Reza MJ, Kar NG, Pearson CM, Kark RAP (1978) Recurrent myoglobinuria due to muscle carnitine palmityltransferase deficiency. Ann Intern Med 88:610–615
Scholte HR, Jennekens FGI, Bouvy JJBJ (1979) Carnitine palmityltransferase II deficiency with normal palmityltransferase I in skeletal muscle and leukocytes. J Neurol Sci 40:39–51
Zierz S, Engel AG (1987) Are there two forms of carnitine palmitoyltransferase in muscle? Neurology 37:1785–1790
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Mongini, T., Doriguzzi, C., Palmucci, L. et al. Myoglobinuria and carnitine palmityl transferase deficiency in father and son. J Neurol 238, 323–324 (1991). https://doi.org/10.1007/BF00315330
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DOI: https://doi.org/10.1007/BF00315330