Ketonuria is a physiological finding in many cases of late infancy,
childhood and even adolescence. Ketosis, which is not associated with
acidosis, hyperlactacidemia or hypoglycemia, is likely to be a normal
physiological indication of the nutritional state (fasting, catabolism,
vomiting, medium-chain triglyceride-enriched or other ketogenic diets).
It may be the cause or consequence of repeated vomiting in infants and
children. However, hyperketosis at a level that produces metabolic
acidosis is not physiological. Hyperglycemia associated with ketosis
indicates the presence of diabetes mellitus.
(succinyl-CoA: oxo-acid transferase and 3-ketothiolase deficiencies)
can present as moderate ketonuria occurring mainly in the fed state at
the end of the day.
Severe fasting ketonuria without acidosis is often observed in
debrancher, and glycogen synthase deficiencies. In both disorders,
hepatomegaly, fasting hypoglycemia and postprandial hyperlactacidemia
are observed. Ketosis without acidosis is also observed in ketotic
hypoglycemias due to adrenal insufficiency, hyperinsulinemic states at
any age and growth hormone deficiency in infancy.