Abstract
Metabolic investigations are reported in a patient with the clinical and biochemical features of "idiopathic hyperglycinemia." During ketoacidosis elevated concentrations in serum of numerous amino acids were noted, especially leucine, isoleucine, valine, glycine, and lysine. Hyperammonemia was found in association with ketoacidosis. Clinical and biochemical amelioration was induced by restriction of protein intake to 1 gm/kg or less. Although exacerbation was produced by increasing the protein intake to 1.5 gm/kg, the patient was able to tolerate as much as 3.0 gm/kg of an amino acid mixture in which leucine, isoleucine, valine, methionine, and threonine were absent. It is postulated that this disease, in contrast to hyperglycinemia caused by a specific disorder in glycine metabolism, represents a generalized defect in utilization of amino acids resulting in excessive deamination of certain amino acids in the muscle, with consequent hyperammonemia and ketoacidosis. The nature of the defect in amino acid metabolism is unknown.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
