Disorders of carbohydrate metabolism
Autosomal recessive conditions. Often presenting with one or more of the following—episodic hypoglycaemia; lactic acidosis; poor growth and hypotonia; mental retardation/developmental delay; and vomiting; cramps, myoglobinuria, and muscle weakness.
Specific enzyme defects preventing mobilization of glucose from glycogen, and resulting in abnormal storage in liver and/or muscle (see Table 26.2).
Fructose-1-phosphate aldolase deficien-cy. Failure to thrive; hypoglycaemia; metabolic/lactic acidosis; vomiting; GI bleeding.
Galactose-1-phosphate uridyltransferase deficiency. Failure to thrive; cata-racts; hepatomegaly; jaundice, vomiting and diarrhoea; mental retardation (if untreated). Treatment with galactose-free diet.