NICU - IEM Questions with complete solution 2024

NICU - IEM Questions with complete solution 2024 An infant begins feeding and has lethargy, jaundice, and liver failure. Labs show elevated LFTs and bilirubin, low glucose, low albumin, and hyperchloremic metabolis acidosis. What is this and what labs do you want to send? - Galactosemia due to galactose-1-phosphate-uridyltransferase deficiency. Urine reducing substances show increased galactose in urine. See elevated precursor: galactose-1-phosphate. What is the treatment for galactosemia? What are these infants at risk for? - Eliminate all galactose/lactose in diet. Risks: cataracts (excess galactitol in lens), E. coli sepsis, learning disabilities, premature ovarian failure. An infant has cataracts. You send labs and they show elevated glucose and increased urine reducing substances. What does this infant have? - Galactokinase deficiency: leading to excess galactose. Cataracts from excess galactitol in lens. Tx: eliminate galactose intake. An infant presents at 3 months old with FTT, diarrhea, and seizures. You send labs that show low/normal glucose, lactic acidosis, elevated uric acid, elevated lipid and TG levels, and abnormal coagulation panel with evidence of liver failure. What does this infant have and what is the enzyme deficiency? - Type I von Gierke (glycogen storage disease): glucose-6-phosphatase deficiency. Affects liver, kidney, GI. Dx: Bx or assay for enzyme. Poor prognosis with early death if no treatment - avoid fasting, allopurinol. An infant has hypertrophic cardiomyopathy, cardiorespiratory failure and generalized symmetric muscle weakness with floppy infant syndrome. You suspect a metabolic disorder - what might this infant have? - Type II Pompe (glycogen storage disease): lysosomal a-glucosidase deficiency leads to glycogen accumulation in lysosomes (skeletal muscle and nerves affected). Tx: enzyme replacement, poor prognosis. An infant presents with vomiting, lethargy, and seizures after introducing cow's milk formula and fruits and vegetables. The infant was asymptomatic on breast milk feeds. What does this infant have and what do you expect i