A four-month-old boy with beta-ketothiolase deficiency is described in this report. Presenting symptoms and signs were vomiting, irritability and acidotic respiration. Laboratory investigations revealed hyperglycinemia, metabolic acidosis and ketosis. Subsequent urinary GC-MS analysis of the patient's urine sample showed the typical pattern of beta-ketothiolase deficiency. Our experience with this case indicates that accurate diagnosis and early treatment of inborn errors might be lifesaving.

How to cite

Altintaş B, Teziç T, Coşkun T, Ozalp I, Kükner S, Kaya A. Beta-ketothiolase deficiency. A case report. Turk J Pediatr 1992; 34: 43-46.