Hyperglycinemia ketotic

Propionic acidemia caused by propionyl CoA carboxylase deficiency causes severe ketosis and acidosis, resulting in failure to thrive and mental retardation, and is generally fatal in infancy. Some reports of ketotic hyperglycinemia may also, with hindsight, be attributed to propionyl CoA carboxylase deficiency. 

Hillman, R.E. and Keating, J.P. (1974), jS-Ketothiolase deficiency as a cause of the Ketotic hyperglycinemia syndrome . Pediatrics, 53,221. 

Ando, T. and Nyhan, W.L. (1974), Propionic acidemia and the ketotic hyperglycinemia syndrome. In Heritable Disorders of Amino Acid Metabolism (ed. W.L. Nyhan), J. Wiley Sons, New York, pp. 37-60. 

Ando, T., Nyhan, W.L., Connor, J.D., Rasmussen, K., Donnell, G., Barnes, N., Cottom, D. and Hull, D. (1972a), The oxidation of glycine and propionic acid in propionic acidemia with ketotic hyperglycinemia. Pediatr. Res., 6,576. 

Brandt, I.K., Hsia, Y.E., Clement, D.H. and Provence, S.A. (1974), Propionic acidemia (ketotic hyperglycinemia) Dietary treatment resulting in normal growth and development. Pediatrics, 53,391. 

Nyhan, W.L. (1978), Non-ketotic hyperglycinemia. In The Metabolic Basis of Inherited Disease (eds J.B. Stanbury, J.B. Wyngaarden and D.S. Fredrickson), 4th edn, McGraw-Hill Book Co., New York, Chapter 26, pp. 518-527. 

Tada K. A block in glycine cleavage reaction as a common mechanism in ketotic and nonketotic hyperglycinemia. Pediatr Res 1974 8 721-3. 

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