Background: Specialized adult care of phenylketonuria (PKU) patients is of increasing importance. Adult outpatient clinics for inherited errors of metabolism can help to achieve this task, but experience is limited. Ten years after establishment of a coordinated transition process and specialised adult care for inherited metabolic diseases, adult PKU care was evaluated with respect to metabolic control, therapy satisfaction, life satisfaction, sociodemographic data, economical welfare as well as pregnancy outcome. Methods: All PKU patients transferred from paediatric to adult care between 2005 and 2015 were identified. A retrospective data analysis and a cross-sectional survey in a sub-cohort of 30 patients including a questionnaire for assessing quality of life (FLZm) were performed as a single-centre investigation at the metabolic department of the University Hospital Leipzig, Germany. For statistical analysis, Mann-Whitney-U-test, t-test for independent samples, ANOVA and chi square test were used as appropriate. Results: 96 PKU patients (56 females/40 males; median age 32 years, range 18–62) were included. In the last 3-year period, 81 % of the transferred patients still kept contact to the adult care centre. Metabolic control was stable over the evaluation period and dried blood phenylalanine concentrations mostly remained within the therapeutic range (median 673.0 μmol/l, range 213.0–1381.1). Sociodemographic data, economical welfare and life satisfaction data were comparable to data from the general population. However, differences could be revealed when splitting the cohort according to time of diagnosis and to management during childhood. 83 % of the PKU adults were satisfied with the transition process and current adult care. 25 completed pregnancies were supervised; three newborns, born after unplanned pregnancy, showed characteristic symptoms of maternal PKU syndrome. Conclusions: Continuous care for adult PKU patients in a specialized outpatient clinic is successful, leading to good to satisfactory metabolic control and social outcomes. Uninterrupted good metabolic treatment throughout childhood and adolescence positively influences educational, professional and economic success in later life. Further effort in specialized paediatric and adult metabolic care is needed to prevent loss of follow-up and to support the recommended life-long treatment and/or care.

Previous research has shown a relationship between prenatal teratogenic exposure and impaired cognitive functioning. However, data regarding the long-term outcome of prenatal teratogenic exposure are minimal. The present study investigated the long-term neuropsychological functioning (specifically attention and memory) of adults prenatally exposed to alcohol or phenylalanine, and examined whether there was evidence to suggest that there are effects specific to individual teratogens. Using a battery of attention and memory measures the performance of 17 adults diagnosed with Fetal Alcohol Syndrome (FAS) and 13 adults with Maternal Phenylketonuria Syndrome (MPKUS) was assessed. In order to identify the pattern of deficits associated with prenatal teratogenic exposure, an age and CA and IQ matched control group was assessed. Attention was broadly assessed using Mirsky et al.'s (1991) neuropsychological model of attention. The memory and learning tests administered included a number of well standardized measures of verbal learning, verbal and visual recall, delayed recall, and recognition. Paired comparisons between the FAS group and age and CA and IQ matched controls indicated a unique pattern of attention and memory deficits consistent with previous research with children and adolescents. Specifically, adult individuals with FAS appear to have deficits in acquisition of new material, delayed recall of verbal material and in response inhibition. Paired comparisons between the MPKUS group and CA and IQ matched controls indicated that the pattern of attention and memory deficits seen in adults with MPKUS is difficult to distinguish when the effect of IQ is removed. A randomized block design using IQ as the blocking variable and group (FAS, MPKUS, or Controls) as the treatment variable was utilized to examine the question of whether the two prenatal teratogen groups differ from one another and from Controls in terms of attention and memory ability. Ten blocks of three participants (FAS, MPKUS and Control) matched on IQ were formed. The randomized block analyses revealed few differences between the groups and failed to reveal a number of the differences found in the paired comparisons between the prenatal teratogen groups and the CA and IQ matched Control group. Possible reasons for these differences are discussed.

Background: Specialized adult care of phenylketonuria (PKU) patients is of increasing importance. Adult outpatient clinics for inherited errors of metabolism can help to achieve this task, but experience is limited. Ten years after establishment of a coordinated transition process and specialised adult care for inherited metabolic diseases, adult PKU care was evaluated with respect to metabolic control, therapy satisfaction, life satisfaction, sociodemographic data, economical welfare as well as pregnancy outcome. Methods: All PKU patients transferred from paediatric to adult care between 2005 and 2015 were identified. A retrospective data analysis and a cross-sectional survey in a sub-cohort of 30 patients including a questionnaire for assessing quality of life (FLZm) were performed as a single-centre investigation at the metabolic department of the University Hospital Leipzig, Germany. For statistical analysis, Mann-Whitney-U-test, t-test for independent samples, ANOVA and chi square test were used as appropriate. Results: 96 PKU patients (56 females/40 males; median age 32 years, range 18–62) were included. In the last 3-year period, 81 % of the transferred patients still kept contact to the adult care centre. Metabolic control was stable over the evaluation period and dried blood phenylalanine concentrations mostly remained within the therapeutic range (median 673.0 μmol/l, range 213.0–1381.1). Sociodemographic data, economical welfare and life satisfaction data were comparable to data from the general population. However, differences could be revealed when splitting the cohort according to time of diagnosis and to management during childhood. 83 % of the PKU adults were satisfied with the transition process and current adult care. 25 completed pregnancies were supervised; three newborns, born after unplanned pregnancy, showed characteristic symptoms of maternal PKU syndrome. Conclusions: Continuous care for adult PKU patients in a specialized outpatient clinic is successful, leading to good to satisfactory metabolic control and social outcomes. Uninterrupted good metabolic treatment throughout childhood and adolescence positively influences educational, professional and economic success in later life. Further effort in specialized paediatric and adult metabolic care is needed to prevent loss of follow-up and to support the recommended life-long treatment and/or care.