Propionicacidemia (Ketotic Hyperglycinemia): Dietary Treatment Resulting in Normal Growth and Development

Abstract

A number of metabolic disorders are now known to bring about a syndrome of recurrent ketoacidosis, vomiting, lethargy, stupor, and hypotonia, to present in the newborn period and to result in neurological impairment or death, if not properly controlled. The subject has been discussed by O'Brien and the number of disorders, primarily those involving a block in the metabolism of amino acids, continues to increase. See image in the PDF file The principles involved in diagnosis and management of these disorders are well exemplified in the present report. At the earliest suspicion that such a disorder exists, one should discontinue protein feeding, obtain blood and urine specimens for metabolic screening, and restore and temporarily maintain a normal metabolic milieu by the administration of water, glucose and balanced electrolytes. Should a specific metabolic block be ascertained, appropriate management, usually lifelong and dietary, may then be instituted with high expectations as to being able to control if not entirely prevent the usually unfavorable consequences. While the sporadic case may not be ascertained before some permanent damage is done, in situations in which the genetic predisposition has been defined the potential for normalcy is present. That this potential has been achieved in this patient is in greatest measure due to the cooperation and understanding of the parents, since the burden of management was primarily theirs.