Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature.
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.
Niezen-Koning
K E
KE
Beatrix Children's Hospital, University Hospital Groningen, The Netherlands.
Wanders
R J
RJ
Ruiter
J P
JP
Ijlst
L
L
Visser
G
G
Reitsma-Bierens
W C
WC
Heymans
H S
HS
Reijngoud
D J
DJ
Smit
G P
GP
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
D000090:Acetoacetates; D000214:Acyl Coenzyme A; C012046:succinyl-coenzyme A; D015256:Coenzyme A-Transferases