While cataracts eventually develop, the neurologic symptoms are absent. B. Fructokinase deficiency would cause an asymptomatic increase in fructose in the urine. C. Fructose 1-phosphate aldolase is deficient in hereditary fructose intolerance. Hypoglycemia and nausea are evident. D. Lactase deficiency results in bloating, gas, and diarrhea due to an inability to digest lactose in the small intestine.
Bacteria act on the undigested lactose to produce the symptoms.
E. Glucose that is formed from fatty acids can maintain blood glucose within the normal range. A. Phosphorylase deficiency only blocks the availability of glucose from glycogen for glycolytic metabolism. Glycolysis otherwise is unaffected. E. Glucose cannot be formed from fatty acids, but fatty acid oxidation can provide the energy needed for gluconeogenesis. A neonatal patient presents with progressive hepatosplenomegaly and cirrhosis.