title: Beta-ketothiolase deficiency. A case report.
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.
authors.affiliation: Dr. Sami Ulus Children's Hospital, Ankara.
authors.forename: B
authors.initials: B
authors.lastname: Altintaş
authors.forename: T
authors.initials: T
authors.lastname: Teziç
authors.forename: T
authors.initials: T
authors.lastname: Coşkun
authors.forename: I
authors.initials: I
authors.lastname: Ozalp
authors.forename: S
authors.initials: S
authors.lastname: Kükner
authors.forename: A
authors.initials: A
authors.lastname: Kaya
mesh_terms: 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
chemical_list: D000102:Acetyl-CoA C-Acyltransferase; D005998:Glycine