Abstract
Significant hyperlysinuria, pipecolic aciduria, hyperlysinemia and hyperammonemia were found in two unrelated infants presenting with severe muscular hypotonia and somnolence in the first weeks of life. In the first patient there was no acidosis, whereas in the second acidosis paralleled hyperammonemia. Lysine intolerance was excluded in the first patient by a normal response to a lysine load. The amino acid pattern in urine/plasma of both patients was not compatible with a primary defect in the urea cycle. Further studies revealed that the first patient suffered from methylmalonic acidemia, the second from propionic acidemia. The typical massive hyperglycinemia appeared only a few weeks later in the course of their disease. Defects leading to the “ketotic hyperglycinemia syndrome” should therefore be included in the differential diagnosis of early hyperlysinemia as in such cases a prompt reduction of protein intake may be of vital importance.
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Schweizer, K., Baumgartner, R. & Wick, H. 83: Hyperlysinemia as an early symptom of the “ketotic hyperglycinemia” syndrome. Pediatr Res 10, 884 (1976). https://doi.org/10.1203/00006450-197610000-00074
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DOI: https://doi.org/10.1203/00006450-197610000-00074