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Beta-ketothiolase deficiency. A case report
B Altintaş1, T Teziç, T Coşkun
1Dr. Sami Ulus Children's Hospital, Ankara.
The Turkish Journal of Pediatrics
|January 1, 1992
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.