Question of the Week

Question :

Posted On : 08 Sep 2008

I have a patient 2 months old. She has jaundice, failure thrive, persistent hypoglycemia, hyperamonemia, metabolic acidosis. Metabolic screening for galactosemia, acylcarnitine profile, aminoacid profile are negative. Can you help me?

Expert Answer :

No expert answer available.

Answer Discussion :

Nalan Karabayir

Have you organic acids profile_?

16 years ago

hisham alrabty

repeat the metabolic secreen because the features of this case going most probably with inborn error of metabolism .

16 years ago

pediatriconcall

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

16 years ago

LORENZO ALEJANDRO CRUZ GARCIA

acidosis tubular renal distal

16 years ago

nasser bolbol

glycogen storge disaese

16 years ago

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