Ketotic hyperglycinaemia

Multiple carboxylase deficiency Non-ketotic hyperglycinaemia S-Oxoprolinuria Phenylketonuria Propionic acidaemia... 

An amino acid found in elevated amounts in blood and urine in the inborn errors of metabolism, non ketotic hyperglycinaemia, (which is possibly due to a deficiency in the enzyme glycine decarboxylase) and propionic acidaemia (ketotic hyperglycinaemia). It is also found in increased amounts in urine along with proline and hydroxyproline in another inborn error, familial iminoglycinuria. This is due to defective membrane transport of these amino acids. 

Brandt, N.J., Rasmussen, K., Brandt, S., K0lvraa, S. and Sch0nheyder, F. (1976) D-Glyceric acidaemia and non-ketotic hyperglycinaemia. Acta Paediatr. Scand., 65, 17. 

The identity of propionic acidaemia with ketotic hyperglycinaemia was confirmed by Gompertz et al. (1970), who reported the second case of propionic acidaemia, a male child of first-cousin Pakistani parents, and correlated the clinical and biochemical observations of propionic acidaemia, hyperglycinaemia, accumulation of odd-carbon-number fatty acids (Ci5 0, Ci7 0, Ci7 1), and butanonuria, with an activity of propionyl-CoA carboxylase in liver mitochondria in vitro of only 10 per cent of that of control. The child died at 8 days of age. 

The earlier reports on patients with chronic propionic acidaemia associated with ketotic hyperglycinaemia tended to concentrate on the occurrence, origin and possible significance of individual metabolites, thereby tending to impart... 

Hsia, Y.E., Scully, K.J. and Rosenberg, L.E. (1969), Defective propionate carboxyla-tion in ketotic hyperglycinaemia. Lancet, 1,757. 

Keto acidosis may occur in infants as a result of specific genetic defects, in addition to its occurrence in association with several other organic acidurias, for example propionic acidaemia (ketotic hyperglycinaemia). Chapter 10, Section 10.4.1 on 2-methylacetoacetyl-CoA thiolase deficiency also discussed a report by Robinson et al. (1979) of a patient with apparent combined deficiencies of this enzyme and of 3-oxoacyl-CoA thiolase, which they considered to be identical enzymes. A report of a case of specific 3-oxoacyl-CoA thiolase deficiency has increased interest in these enzymes as causes of congenital keto acidosis, and these are discussed further below, as are patients with a different cause of a similar biochemical condition, succinyl-CoA 3-keto acid-CoA transferase deficiency. 

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