Document Detail

Beta-ketothiolase deficiency. A case report.
MedLine Citation:
PMID:  1509529     Owner:  NLM     Status:  MEDLINE    
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.
B Altintaş; T Teziç; T Coşkun; I Ozalp; S Kükner; A Kaya
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  The Turkish journal of pediatrics     Volume:  34     ISSN:  0041-4301     ISO Abbreviation:  Turk. J. Pediatr.     Publication Date:    1992 Jan-Mar
Date Detail:
Created Date:  1992-09-23     Completed Date:  1992-09-23     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  0417505     Medline TA:  Turk J Pediatr     Country:  TURKEY    
Other Details:
Languages:  eng     Pagination:  43-6     Citation Subset:  IM    
Dr. Sami Ulus Children's Hospital, Ankara.
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MeSH Terms
Acetyl-CoA C-Acyltransferase / deficiency*
Diagnosis, Differential
Glycine / blood
Ketosis / etiology
Metabolism, Inborn Errors / blood*,  complications,  urine
Reg. No./Substance:
56-40-6/Glycine; EC C-Acyltransferase

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