A 5-year-old with repeated urinary tract stones is found to have orange sand in his diaper and marked hyperuricemia. He is nonverbal, bites his lips and fingers, and demonstrates dystonia. What is the diagnosis?
A 4-year-old child with fair skin, speech delay, moderate hyperphenylalaninemia, but normal urine ferric chloride test and no phenylketones, likely has?
A 2-month-old infant with macrosomia, macroglossia, and omphalocele has persistent hypoglycemia requiring high glucose infusion. Which underlying mechanism explains the hypoglycemia?
A 7-year-old boy presents with hematuria, hypertension, and nephrolithiasis. Stone analysis reveals xanthine content. Which treatment is most effective in preventing further stone formation?
A 6-year-old has progressive joint restrictions, macroglossia, coarse facies, hepatosplenomegaly, and recurrent hernias. Radiology reveals thickened calvaria and “oar-shaped” ribs. What term best describes these skeletal changes?
A 3-year-old with trouble walking, elevated plasma proline, and Δ1-pyrroline-5-carboxylate in urine improves after vitamin B6. What is the diagnosis?
A 1-week-old infant with jaundice and hemolytic anemia has dark red urine and develops severe skin blistering with minimal sun exposure. Labs show massive elevation of urinary uroporphyrin I and coproporphyrin I. What is the best long-term management to prevent photosensitivity?
A 4-year-old girl has chronic skin blistering on the hands, hypertrichosis, and elevated plasma and urine uroporphyrin and heptacarboxyl porphyrin. Her liver enzymes are mildly elevated. What is the first-line treatment option most likely to induce remission?
A neonate has recurrent infections, chronic diarrhea, and fails to thrive. Labs show profound lymphopenia and megaloblastic anemia. What therapy is essential for this immunodeficiency?
A 3-year-old with known very-long-chain acyl-CoA dehydrogenase deficiency develops hepatomegaly and muscle weakness following a gastrointestinal illness. Which laboratory finding is most expected?