Lifespan is reduced. Treatment consists of lifelong dietary management and counseling. This is an inherited disorder of galactose metabolism. Galactose is the major sugar found in milk. Symptoms include severe mental retardation, overwhelming systemic infections, failure to thrive, vomiting, liver disease, and cataracts.
Untreated galactosemia is generally fatal.
Symptoms include an odor of maple syrup in the urine, poor feeding, lethargy, coma, and mental retardation. If not treated, death commonly occurs within three months of birth. Treatment requires dietary restriction of branched-chain amino acids, necessitating a complicated formula and intensive monitoring. The most common cause of homocystinuria is a deficiency in the enzyme cystathionine -synthase. Approximately 50 percent of untreated individuals die before age 25.