A patient with episodic metabolic decompensation, vomiting, acidosis, and elevated organic acids in urine likely has which class of IEM?
Show answer and explanation
Correct answer: Organic acidemia / aciduria
Organic acidemias (or acidurias) lead to accumulation of toxic organic acids, causing metabolic acidosis, vomiting, and metabolic decompensation, especially during catabolic stress.
Keep practicing
More Inborn Errors of Metabolism questions
- Which inborn error of metabolism would you suspect in a child with intermittent hypoketotic hypoglycemia, especially during fasting or illn…
- Why do many amino acid–metabolism IEMs result in neurologic deficits if untreated early in life?
- Which of the following best describes why IEMs may sometimes remain undiagnosed until adulthood in milder cases?
- Which of the following IEM categories involves inability to produce energy effectively from fats, especially during fasting, leading to hyp…
- A newborn with elevated blood galactose after feeding develops jaundice, vomiting and liver dysfunction. This scenario best fits which IEM…
- A newborn screening picks up elevated phenylalanine levels. Which enzyme deficiency is most consistent with this finding?