Psychiatric Disorders in Adult Patients With Early-treated Phenylketonuria

Pietz, Joachim; Fätkenheuer, B.; Burgard, Peter; Armbruster, Meinrad; Esser, G; Schmidt, H

doi:10.1542/peds.99.3.345

Cited by 108 publications

(94 citation statements)

References 22 publications

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“…This does not encourage the removal of dietary treatment during adolescence, but it suggests relaxation of diet may not result in progression of neuropsychological deficits. Pietz et al (1997) suggested that adults with PKU may have an increased prevalence of psychiatric disorders despite continuing dietary treatment. When comparing 35 adults with PKU to a control group of 181 18-year-old subjects, 25.7 percent of those with PKU exhibited psychiatric disorders compared to 16.1 percent of controls.…”

Section: Processing Speedmentioning

confidence: 99%

“…When comparing 35 adults with PKU to a control group of 181 18-year-old subjects, 25.7 percent of those with PKU exhibited psychiatric disorders compared to 16.1 percent of controls. The psychiatric symptoms included depressed mood, phobias, generalized anxiety, hypochondria worries, and anxiety at work (Pietz et al 1997). However, a study comparing women who were late-treated or off-diet with early-and continuously-treated women demonstrated significantly higher scores on measures of social introversion and psychopathology than the early-treated group (Brumm and Grant 2010).…”

Section: Processing Speedmentioning

confidence: 99%

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Correlation of age‐specific phenylalanine levels with intellectual outcome in patients with phenylketonuria

Viau

Wengreen

Ernst

et al. 2011

J of Inher Metab Disea

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This study includes data collected from a retrospective chart review of patients with phenylketonuria treated at the University of Utah Metabolic Clinic. Among the approximately 175 patients treated for phenylketonuria at this clinic, 55 patients (28 female) met the inclusion criteria for the present study. Based on the diagnostic Phe level, 66.7% were classified as having classic phenylketonuria, 18.5% with moderate phenylketonuria, and 14.8% with mild phenylketonuria.

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Section: Processing Speedmentioning

confidence: 99%

Section: Processing Speedmentioning

confidence: 99%

Correlation of age‐specific phenylalanine levels with intellectual outcome in patients with phenylketonuria

Viau

Wengreen

Ernst

et al. 2011

J of Inher Metab Disea

View full text Add to dashboard Cite

show abstract

“…As a consequence, eating disorders are not uncommon in PKU patients (Burgard et al, 1994;Pietz et al, 1997;Weglage et al, 2000;Anon, 2001). If dietary restrictions can be eased without compromising metabolic control, this can be expected to improve the quality of life and may even enhance compliance.…”

Section: Introductionmentioning

confidence: 99%

Unrestricted consumption of fruits and vegetables in phenylketonuria: no major impact on metabolic control

Rohde¹,

Mütze²,

Weigel³

et al. 2012

Eur J Clin Nutr

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Background/Objectives: The treatment of phenylketonuria (PKU) requires consistent restriction of protein intake from natural sources. Therefore, protein from all foods has to be accounted for, even the small amounts in fruits and vegetables. We studied whether free consumption of fruits and vegetables containing less than 75 mg phenylalanine (phe) per 100 g affects metabolic control in children with PKU. Subjects/Methods: Fourteen children (2-10 years) were included in a cross-over study, with a two-week period of conventional treatment (accounting for protein from fruits and vegetables) and a two-week period with free fruit and vegetable consumption. The instruction to follow liberal fruit and vegetable consumption in the first or second study period was randomized. Detailed daily dietary records were obtained throughout the study. Phe and nutrient content was calculated. Dried-blood phe concentration was monitored daily. Results: Although total phe intake increased by an average of 58 mg per day (P ¼ 0.037) during the 2 weeks of free fruit and vegetable consumption, dried-blood phe concentrations were unchanged. Total intake of fruits and vegetables did not increase, but patients instead used the higher phe tolerance to consume more of other foods, which were calculated and accounted for. Conclusion: Free consumption of fruits and vegetables does not impair metabolic control in PKU patients over a 2-week period.

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“…A number of studies suggest that these controlled patients still suffer some cognitive loss and clear neurologic stress (Diamond et al, 1997;Levy, 1999;Pietz et al, 1997Pietz et al, ,1998Pietz, 1998). Thus while dietary therapy for PKU can alleviate many of the most deleterious effects of the disease, it is not completely successful from a clinical standpoint.…”

Section: Introductionmentioning

confidence: 99%

PKU is a reversible neurodegenerative process within the nigrostriatum that begins as early as 4 weeks of age in Pahenu2 mice

et al. 2007

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Phenylketonuria (PKU) is a common genetic disorder in humans that arises from deficient activity of phenylalanine hydroxylase (PAH), which catalyzes the conversion of phenylalanine to tyrosine. There is a resultant hyperphenylalanemia with subsequent impairment in cognitive abilities, executive functions and motor coordination. The neuropathogenesis of the disease has not been completely elucidated, however, oxidative stress is considered to be a key feature of the disease process. Hyperphenylalanemia also adversely affects monoaminergic metabolism in the brain. For this reason we chose to evaluate the nigrostriatum of Pah enu2 mice, to determine if alterations of monoamine metabolism resulted in morphologic nigrostriatal pathology. Furthermore, we believe that recent developments in adeno-associated virus (AAV)-based vectors have greatly increased the potential for long-term gene therapy and may be a viable alternative to dietary treatment for this metabolic disorder. In this study we identified neurodegenerative changes with regenerative responses in the nigrostriatum of Pah enu2 mice that are consistent with oxidative injury and occurred as early as 4 weeks of age. These neuropathologic changes were reversed following portal vein delivery of a recombinant adeno-associated virus-mouse phenylalanine hydroxylase-woodchuck hepatitis virus post-transcriptional response element (rAAV-mPAH-WPRE) vector to Pah enu2 mice and corresponded to rapid reduction of serum Phe levels.

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Psychiatric Disorders in Adult Patients With Early-treated Phenylketonuria

Abstract: Our results support a psychological perspective for the development of psychiatric symptoms in PKU. Thus, optimizing medical treatment necessary to prevent brain damage should be accompanied by psychiatric monitoring and psychological support for the families.

Cited by 108 publications

References 22 publications

Correlation of age‐specific phenylalanine levels with intellectual outcome in patients with phenylketonuria

Correlation of age‐specific phenylalanine levels with intellectual outcome in patients with phenylketonuria

Unrestricted consumption of fruits and vegetables in phenylketonuria: no major impact on metabolic control

PKU is a reversible neurodegenerative process within the nigrostriatum that begins as early as 4 weeks of age in Pahenu2 mice

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