KETOSIS, UNSPECIFIC [DD] | |
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OMIM = Online Mendelian Inheritance of Men | |
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--- Detail information to gene locus by the National Center for Biotechnology Information NCBI: |
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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) |
Symptoms | ketosis, ketoacidosis diarrhea feeding difficulties, poor feeding metabolic acidosis onset, childhood onset, infancy Organic acids, urine vomiting |