Visit Metagene.de!
Summary
SUCCINYL CoA: 3-KETOACID CoA TRANSFERASE DEFICIENCY (SCOT)
3-@OXOACID CoA TRANSFERASE OXCT KETOACIDOSIS OF INFANCY
245050
OMIM = Online Medalian Inheritance of Men
832
5p13.1
  • glucose infusion (acute)
  • low-protein diet
  • sodium bicarbonate
very rare (>30 patients)
autosomal recessive
mutation in the OXCT1 gene
ketoacidosis during infections
The presence of hypoglycaemia does not exclude the diagnosis of SCOT deficiency in infancy [Berry et al. 2001]
symptoms
cardiomyopathy
coma
early death
hepatomegaly (large liver)
hypoglycemia
hypotonia
ketosis, ketoacidosis
lethargy, drowsiness, malaise or sleep disorder
metabolic acidosis
onset, infancy
onset, neonatal
tachypnea, hyperpnea, dyspnea, respiratory distress
laboratory finding
3-Hydroxybutyrate + Acetoacetate3.606.100.000.20mmol/lplasma
3-Ketoacid CoA transferase2.302.409.8013.00nmol/min/mg proteinfibroblasts
14C-Acetoacetate oxidation0.501.909.4011.80nmol/h/mg proteinfibroblasts
Ketone bodies +++urine
Ketone bodies increasedblood
3-Hydroxybutyric acid0.000.00 increasedurineno data
Acetoacetic acid0.000.00 increasedurineno data
D-Glucose normal-decreasedblood
Literature
Boles RGet al.Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of lifeJ Pediatr1326924-9331998
Narkewicz MRet al.Liver involvement in Alpers diseaseJ Pediatr1190260-2671991
Boles RGet al.Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of lifeJ Pediatr1326924-9331998
New Author000
Arakawa T,et al.Formiminotransferase deficiency syndrome associated with megaloblastic anemia responsive to pyridoxine or folic acidTohoku J Exp Med9413-161968
Straussberg Ret al.Recurrent myoglobinuria as a presenting manifestation of very long chain acyl coenzyme A dehydrogenase deficiencyPediatrics990894-8961997
Desnick RJIoannou YA, Eng CMalpha-Galactosidase A deficiency: Fabry diseaseThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202741-27841995
Costa CGet al.The effect of fasting, long-chain triglyceride load and carnitine load on plasma long-chain acyl-carnitine levels in mitochondrial very long-chain acyl-CoA dehydrogenase deficiencyJ Inherit Metab Dis210391-3991998
Kalafatic Z,et al.A liver urocanase deficiencyMetabolism29111013-10191980
Liss DB,et al.What is the clinical significance of 5-oxoproline (pyroglutamic acid) in high anion gap metabolic acidosis following paracetamol (acetaminophen) exposure?Clin Toxicol (Phila)519817-8272013
Chesney RWIminoglycinuriaThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.31203643-36531995
Niederwieser A,et al.Hydantoin-5-propionic aciduria in folic acid nondependent formiminoglutamic aciduria observed in two siblingsPediatr Res1104215-2191976
Arakawa T,et al.Familial occurrence of formiminotransferase deficiency of syndromeTohoku J Exp Med963211-2171968
New Author000
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994