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Summary
KETOSIS, UNSPECIFIC DD
  • supportive/symptomatic therapy
ketosis is a very frequent finding in infancy and childhood, defects of ketolysis are very rare and show persistent elevation of ketone bodies also in the fed state. Ketonuria in a sick neonate is not always synonymous with a primary metabolic disorder.
symptoms
diarrhea
feeding difficulties, poor feeding
ketosis
metabolic acidosis
Organic acids, urine
vomiting
laboratory finding
3-Hydroxybutyric acid100.0050000.00 mmol/mol creatinineurineno data
Acetoacetic acid50.0020000.000.002.00mmol/mol creatinineurine
3-Hydroxyisobutyric acid50.003000.002.0033.00mmol/mol creatinineurine
2-Methyl-3-hydroxybutyric acid10.00200.00 mmol/mol creatinineurine
Adipic acid15.00450.001.007.00mmol/mol creatinineurine
Suberic acid2.00100.000.002.00mmol/mol creatinineurinechildhood
Adipic acid/3-Hydroxybutyric acid0.000.40 ratiourine
3-Hydroxyisovaleric acid50.00500.000.0046.00mmol/mol creatinineurine
Ketone bodies0.000.00 +/++/+++urineno data
Literature
Kari JAFarouq M, Alshaya HOFamilial hypomagnesemia with hypercalciuria and nephrocalcinosisPediatr Nephrol180506-5102003
Gropman AVigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiencyAnn Neurol Suppl540S66-722003
Lehnert WRuitenbeek WEthylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiencyJ Inh Met Dis160557-5591993