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  • Title: Beta-ketothiolase deficiency. A case report.
    Author: Altintaş B, Teziç T, Coşkun T, Ozalp I, Kükner S, Kaya A.
    Journal: Turk J Pediatr; 1992; 34(1):43-6. PubMed ID: 1509529.
    Abstract:
    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.
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