Delayed growth, peculiar “doll-like” facies.
Mental development can be normal; however, seizures are frequently caused by
neurological impairment or by hypoglycemia. Episodes of profound
hypoglycemia and lactic acidosis may be prevented by frequent daytime
feeding and continuous enteral feeding at night. Renal and hepatic
involvement can be observed (reduced creatinine clearance, focal segmental
glomerulosclerosis, renal stones, liver adenomas, hepatocellular carcinoma,
hepatomegaly with enlarged liver and kidneys, secondary platelet dysfunction
with prolonged bleeding). Osteoporosis, gouty arthritis, and xanthoma are
frequent. Hypertension can occur. Survival to adulthood is common with
appropriate management.