title: Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature.
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.
  
  
  CONCLUSIONS
  Defects of ketolysis probably are underdiagnosed disorders and should be considered in infants and young children with persistent ketosis.
authors.affiliation: Beatrix Children's Hospital, University Hospital Groningen, The Netherlands.
authors.forename: K E
authors.initials: KE
authors.lastname: Niezen-Koning
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: J P
authors.initials: JP
authors.lastname: Ruiter
authors.forename: L
authors.initials: L
authors.lastname: Ijlst
authors.forename: G
authors.initials: G
authors.lastname: Visser
authors.forename: W C
authors.initials: WC
authors.lastname: Reitsma-Bierens
authors.forename: H S
authors.initials: HS
authors.lastname: Heymans
authors.forename: D J
authors.initials: DJ
authors.lastname: Reijngoud
authors.forename: G P
authors.initials: GP
authors.lastname: Smit
mesh_terms: D000090:Acetoacetates / Q000378:metabolism*; D000214:Acyl Coenzyme A / Q000378:metabolism*; D015256:Coenzyme A-Transferases / Q000172:deficiency*; D006801:Humans; D007223:Infant; D007662:Ketosis / Q000201:enzymology*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000201:enzymology* / Q000628:therapy
chemical_list: D000090:Acetoacetates; D000214:Acyl Coenzyme A; C012046:succinyl-coenzyme A; D015256:Coenzyme A-Transferases