Beta-ketothiolase deficiency. A case report.
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.
Altintaş
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Dr. Sami Ulus Children's Hospital, Ankara.
Teziç
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Coşkun
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T
Ozalp
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I
Kükner
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S
Kaya
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A
D000102:Acetyl-CoA C-Acyltransferase / Q000172:deficiency*; D003937:Diagnosis, Differential; D005998:Glycine / Q000097:blood; D006801:Humans; D007223:Infant; D007662:Ketosis / Q000209:etiology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood* / Q000150:complications / Q000652:urine
D000102:Acetyl-CoA C-Acyltransferase; D005998:Glycine