Abstract
We describe the clinical symptoms and biochemical findings of a patient with succinyl-CoA:acetoacetate transferase deficiency who presented in the neonatal period and review the current literature on this subject. Our patient was initially suspected to have distal renal tubular acidosis, and subsequently, a fasting test revealed severe metabolic ketoacidosis with normal blood glucose after 13 h which suggest a defect in ketolysis. In his cultured skin fibroblasts succinyl-CoA:acetoacetate transferase was deficient (residual activity 15%). Treatment in the acute phase consisted of sodium bicarbonate. At the present age of 9 years, psychomotor and physical development are within normal limits. Conclusion: Defects of ketolysis probably are underdiagnosed disorders and should be considered in infants and young children with persistent ketosis
Original language | Undefined/Unknown |
---|---|
Pages (from-to) | 870-873 |
Journal | European journal of pediatrics |
Volume | 156 |
Issue number | 11 |
DOIs | |
Publication status | Published - 1997 |
Keywords
- AMC wi-buiten