You can do more for your patients with PKU. Help them thrive with a combination of treatments, dietary management strategies, and supportive resources.
|4||IQ similar to general population61|
|6||IQ related to age of starting diet32|
|8||Subjects on-diet performed better on IQ and school achievement tests than subject off-diet32|
|Adult||Adults on-diet had fewer medical and mental disorders and higher cognitive test scores than subjects off-diet63|
These findings have led to the “Diet for life” philosophy used in most clinics across the U.S. and world.
Numerous health consequences have been associated with a Phe-restricted diet, including neurocognitive deficits,4 weight gain/obesity, growth retardation,24,64,65 nutritional problems,2,66-68 and bone mass reduction.20
Numerous health consequences have been associated with a Phe-restricted diet including neurocognitive deficits,4 weight gain/obesity and growth retardation,24,64,65 nutritional problems,2,66-68 and bone mass reduction.20
Patients who follow the Phe-restricted diet are not immune to the neurocognitive effects of PKU.4 Even those who manage the disease with dietary management strategies may have changes in IQ, processing speed, attention, memory, inhibition, and motor control.4
The growth patterns, height and weight of 133 children with PKU (ages 2-10) who were participating in the Collaborative Study of Children Treated for Phenylketonuria were compared with data from the National Center for Health Statistics (NCHS) for unaffected children. Higher Phe levels in the PKU group were associated with higher weight levels, more so for girls than for boys.64 There were statistically significant mean weight (kilogram) value differences when comparing females from the PKU vs. the NCHS group at 4 years of age (17.32 kg vs. 15.88 kg) and at 7 years of age (25.20 kg vs. 22.24 kg). For males 5 years of age, mean weight value differences (kg) were also statistically significant (19.97 kg vs. 18.55 kg).64
A 1-year longitudinal study assessed nutrient intake, physical growth, and plasma amino acid concentrations in 58 children with PKU (2-12 years of age) who were undergoing therapy with medical food. While linear growth of children with PKU was within the normal limits, obesity was present in a significant number of these children.65
Based on these studies, energy intake, physical activity, and weight of patients with PKU should be carefully monitored.24
Patients who use dietary management strategies have marked nutritional deficiencies or issues that may cause serious sequelae:
An improvement of protein quality may be the key to normal growth and body composition in PKU children67
Nutritional deficiencies are associated with declines in bone mass, leading to osteopenia and osteoporosis. In a clinical study of PKU patients, mean age 25 years, on a Phe-restricted diet, 39% developed osteopenia, and 7%, osteoporosis.20