Galactose is the major sugar found in milk. It is normally converted to glucose, another simple sugar, but in galactosemia, the enzyme needed for this conversion is missing. Galactose accumulates in and damages the body's cells and organs. Children treated with this special diet usually show satisfactory general health and growth. Maple Syrup Urine Disease.
Symptoms appear several days after birth and also include poor feeding, lethargy and coma.
Death within three months of birth is common. Maple syrup urine disease is caused by abnormal metabolism of three amino acids and is treated by a complicated infant formula that must begin immediately following early diagnosis. It can be diagnosed through the same blood sample used to screen for PKU and galactosemia. Prompt treatment and careful follow-up in maintaining the special diet have helped many children to have normal intelligence. Cystathionine is needed by the brain for normal development.