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Summary
KETOSIS, UNSPECIFIC DD
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OMIM = Online Medalian Inheritance of Men

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • 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, ketoacidosis
metabolic acidosis
onset, childhood
onset, infancy
Organic acids, urine
vomiting
laboratory finding
3-Hydroxybutyric acid100.005000.00 mmol/mol creatinineurine
Acetoacetic acid50.002000.000.002.00mmol/mol creatinineurine
3-Hydroxyisobutyric acid50.003000.000.0010.00mmol/mol creatinineurine
2-Methyl-3-hydroxybutyric acid10.00200.00 mmol/mol creatinineurine
Adipic acid15.00450.001.007.00mmol/mol creatinineurine
Suberic acid6.00100.001.0010.00mmol/mol creatinineurine
Adipic acid/3-Hydroxybutyric acid0.000.40 ratiourine
3-Hydroxyisovaleric acid50.00500.0010.0066.00mmol/mol creatinineurine
Ketone bodies0.000.00 +/++/+++urine
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