PKU in young people and adults
The right diet permits the regular development of adolescents, both mentally and physically, allowing them to lead normal lives.
Adult requirements for amino acids are not significantly different from those of children, but there are some other, equally important, nutrients.
• calcium and vitamin D to prevent osteoporosis (loss of bone mass)
• folic acid to prevent arteriosclerosis(hardening of arterial walls)
• fiber, for normal digestive health
• Omega 3 essential fatty acids which strengthen immunity and have neuroprotective effects
The amino acid mixtures for young people and adults are available in practical packaging that allows for an active lifestyle.
Testing of phenylalanine in the blood is less frequent than for infants, but regular monthly monitoring is still necessary.
PKU and pregnancy
The desire to have children is the most natural impulse in the world. For women with PKU, constant and rigorous attention is required from the initial “decision” to have a child. A strict diet is necessary even before conception in order to keep the concentration of phenylalanine within the desired limits. Ideally, in the six months before conception, a level of phenylalanine in the blood of 120 µmol/l should be achieved and maintained. Foods that should be cut out completely are all products of animal origin (meat, fish, eggs, milk and dairy products in general) and beans. Grain-based foods (bread, pasta and bakery products) as well as eggs and milk can be substituted with protein- free dietary products. Women with PKU whose children are born without the disease can breastfeed their babies, even though their milk is richer in phenylalanine than milk from a healthy mother. The diet must be maintained for life and routine blood testing will be required to establish that nutritional intake is balanced. The greater the motivation to follow a strict, rigorous diet, the greater its success in ensuring that a child will not face any consequences (e.g. mental retardation) of the mother’s phenylketonuria. The levels of phenylalanine in the blood must be reduced before pregnancy and held stable at 120 µmol/l of blood. If prior to conception, the blood level of phenylalanine in the mother-to-be is fully controlled, i.e. less than 240 µmol per liter of blood, the child has optimum conditions for normal development and, in most cases (as the probability is minimal), the unborn baby will not be affected phenylketonuria even if it is a carrier of the altered gene.