Question

Case #2 • A newborn infant develops severe vomiting and symptoms of metabolic acidosis. • Results of UA are: Positive for ketones and negative for glucose and other reducing substances • Questions: 1. State a UA screening test that would be a positive in this patient? 2- if the urine had an odor of "sweaty feet", what metabolic disorder would be suspected?

Answer 1

1, The child had sustained episodes of ketoacidosis which is nondiabetic due to negative glucose in UA. There is a metabolic disorder in children called isovaleric academia.
2, sweaty feet odor in urine indicate isovaleric acidemia. It is an autosomal recessive disease of leucine metabolism. clinical symptoms associated with this condition are vomiting and severe acidosis.
3, Rapid spot test for identifying urine methylmalonic acid in urine samples make accurate screening for methylmalonic acidemia in isovaleric acidemia.
4, when there is metabolic defect there is phenyl ketonemia present due to the presence of phenolic hydroxyl.
5, GEnetic testing registry(GTR) provides information about genetic tests.ACTion (ACT) sheet, Algorithm flowchart, babies the first test, and newborn screening provides information related to the diagnosis.