A. Defective galactokinase produces galactosemia. B. Defective fructokinase produces fructosuria. D. Defective muscle phosphorylase does not affect blood sugar or liver glycogen. E. Defective pyruvate dehydrogenase would produce lactic acidosis. A neonatal patient presents with progressive hepatomegaly and mild hypoglycemia.
Lactic acidosis is absent, but the glycogen shows an abnormal structure.
Treatment avoids fasting plus liberal access to protein for gluconeogenesis. B. alpha-glucosidase deficiency produces Pompe s disease, a lysosomal glycogen storage disease. It is generalized to all tissues with the heart being the most vulnerable. C. Liver phosphorylase deficiency produces Her s disease. D. Branching enzyme deficiency produces Andersen s disease.