go back


OMIM = Online Mendelian Inheritance of Men

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
R82.4, E87.2
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.
Laboratory findings    2-Methyl-3-hydroxybutyric acid inc (urine)
    3-Hydroxybutyric acid inc (urine)
    3-Hydroxyisobutyric acid inc (urine)
    3-Hydroxyisovaleric acid inc (urine)
    Acetoacetic acid inc (urine)
    Adipic acid inc (urine)
    Adipic acid/3-Hydroxybutyric acid inc (urine)
    Ketone bodies (urine) inc (urine)
    Suberic acid inc (urine)
Symptomsketosis, ketoacidosis
    feeding difficulties, poor feeding
    metabolic acidosis
    onset, childhood
    onset, infancy
    Organic acids, urine