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- B Altintaş, T Teziç, T Coşkun, I Ozalp, S Kükner, and A Kaya.
- Dr. Sami Ulus Children's Hospital, Ankara.
- Turkish J Pediatr. 1992 Jan 1;34(1):43-6.
AbstractA 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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