Succinyl-CoA :acetoacetate transferase deficiency : identification of a new patient with a neonatal onset and review of the literature

• Published in: European journal of pediatrics Vol. 156; no. 11; pp. 870 - 873
• Main Authors: NIEZEN-KONING, K. E, WANDERS, R. J. A, RUITER, J. P. N, IJLST, L, VISSER, G, REITSMA-BIERENS, W. C. C, HEYMANS, H. S. A, REIJNGOUD, D. J, SMIT, G. P. A
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01.11.1997; Berlin Springer Nature B.V
• Subjects: Acetoacetates - metabolism; Acyl Coenzyme A - metabolism; Biological and medical sciences; Carbohydrates (enzymatic deficiencies). Glycogenosis; Coenzyme A-Transferases - deficiency; Errors of metabolism; Humans; Infant; Ketosis - enzymology; Literature reviews; Male; Medical sciences; Metabolic diseases; Metabolism, Inborn Errors - diagnosis; Metabolism, Inborn Errors - enzymology; Metabolism, Inborn Errors - therapy; Human; Case study; Newborn; Enzyme; Transferases; Deficiency; CoA-transferases; Clinical form; Metabolic diseases; 3-Oxoacid CoA-transferase
• ISSN: 0340-6199; 1432-1076
• DOI: 10.1007/s004310050733

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. Defects of ketolysis probably are underdiagnosed disorders and should be considered in infants and young children with persistent ketosis.