Abstract
In 1965 I joined Dr. Barness at the Hospital of the University of Pennsylvania. A year earlier Elizabeth Jamison Hodges had published a children’s book1 that described a story with amazing similarities to many of the adventures that the three of us—ie, Bill Mellman, Frank Oski, and I—had with the “Chief.” Let me quote from the introduction of that book.
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References
Hodges EJ: The Three Princes of Serendip New York: Antheneum, 1964.
Barness LA, Young D, Mellman WJ, Kahn SB, Williams WJ: Methylmalonate excretion in a patient with pernicious anemia. N Engl J Med 268:144–146, 1963.
Morrow G, Barness LA, Auerbach VH, DiGeorge AM, Ando T, Nyhan WL: Observations on the coexistence of methylmalonic acidemia and glycinemia. J Pediatr 74:680–690, 1969.
Morrow G, Barness LA, Cardinale GJ, Abeles RH, Flaks JG Congenital methylmalonic acidemia: Enzymatic evidence for two forms of the disease. Proc Natl Acad Sci USA 63:191–197, 1969.
Rosenberg LE, Lilljeqvist A, Hsia YE: Methylmalonic aciduria: An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia. N Engl J Med 278:1319–1322, 1968.
Morrow G, Schwartz RH, Hallock JA, Barness LA: Prenatal detection of methylmalonic acidemia. J Pediatr 77:120–123, 1970.
Ampola MG, Mahoney MJ, Nakamura E, Tanaka K: Prenatal therapy of a patient with vitamin-B12-responsive methylmalonic acidemia. N Engl J Med 293:313–317, 1975.
Morrow G, Lebowitz J: Studies of methylmalonyl-coenzyme A carbonylmutase activity in methylmalonic acidemia. II. In vitro binding kinetics with adenosylcobalamin. Biochem Med 15:241–245, 1976.
Gravel RA, Mahoney MJ, Ruddle FH, Rosenberg LE: Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism. Proc Natl Acad Sci USA 72:3181–3185, 1975.
Wajner M, Eneida CB, Dutra JC, et al: Diminished concentrations of ganglioside N-acetylneuraminic acid (G-NeuAc) in cerebellum of young rats receiving chronic administration of methylmalonic acid. J Neurol Sci 85:233–238, 1988.
Carmel R, Watkins D, Goodman SI, Rosenblatt DS: Hereditary defect of cobalamin metabolism (cblG mutation) presenting as a neurologic disorder in adulthood. N Engl J Med 318:1738–1741, 1988.
Fowler B, Giles L, Sardharwalla IB, Donnai P, Clayton JK: First trimester diagnosis of methylmalonic aciduria. Prenat Diagn 8:207–213, 1988.
Ledley FD, Lumetta R, Zoghbi HY, Vantuinen P, Ledbetter SA, Ledbetter DH: Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6. Am J Hum Genet 42:839–846, 1988.
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© 1990 Springer-Verlag New York inc.
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Morrow, G. (1990). From Megaloblastosis to Molecular Definition in Methylmalonic Acidemia. In: Pomerance, H.H., Bercu, B.B. (eds) Topics in Pediatrics. Springer, New York, NY. https://doi.org/10.1007/978-1-4612-3230-8_15
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DOI: https://doi.org/10.1007/978-1-4612-3230-8_15
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