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Question
I has a patient 2 months old. She has jaundice, failure thrive, persistent hypoglycemia, hyperamonemia, metabolic acid and non anion gap. Screening metabolic for galactosemia: negative, acylcarnitine profile: negative, aminoacid profile: negative. Can you help me?

Answer
What about hepatomegaly? Do a urine organic acids and rule out fatty acid oxidation defects, urea cycle defects and organic acidemia.
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