biochem disorders Flashcards
1
Q
fructose 1-phosphate aldolase deficiency results in
A
accum of fructose-1-phosphate in liver/renal proximal tubules (fanconi syndrome)
2
Q
symptoms of fructose 1-phosphate aldolase deficiency, which results in accum of fructose-1-phosphate in liver/renal proximal tubules…
A
lethargy, vomiting, hyperbilirubinemia, hypoglycemia, hyperuricemia and renal proximal tubule defect (fanconi syndrome)
