Deficiency of long-chain polyunsaturated fatty acids in phenylketonuria: a cross-sectional study

Drzymała-Czyż, Sławomira; Kałużny, Łukasz; Krzyżanowska-Jankowska, Patrycja; Walkowiak, Dariusz; Mozrzymas, Renata; Walkowiak, Jarosław

doi:10.18388/abp.2018_2565

Cited by 7 publications

(10 citation statements)

References 24 publications

(33 reference statements)

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“…LCPUFAs have been found to be decreased in systematic review and meta-analysis of studies in PKU, likely secondary to dietary restriction and possibly metabolic changes, though the latter is only partially understood (174, 175). The addition of omega-3 docosahexaenoic acid (DHA) to the diet of children with PKU has been shown to increase central nervous system processing speed (as measured by visual evoked potentials) as well as motor and coordination skills, suggesting DHA is an essential part of the treatment of PKU (176).…”

Section: Case Vignettesmentioning

confidence: 99%

Psychiatric and Cognitive Aspects of Phenylketonuria: The Limitations of Diet and Promise of New Treatments

et al. 2019

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Phenylketonuria (PKU) is a recessive disorder of phenylalanine metabolism due to mutations in the gene for phenylalanine hydroxylase (PAH). Reduced PAH activity results in significant hyperphenylalaninemia, which leads to alterations in cerebral myelin and protein synthesis, as well as reduced levels of serotonin, dopamine, and noradrenaline in the brain. When untreated, brain development is grossly disrupted and significant intellectual impairment and behavioral disturbance occur. The advent of neonatal heel prick screening has allowed for diagnosis at birth, and the institution of a phenylalanine restricted diet. Dietary treatment, particularly when maintained across neurodevelopment and well into adulthood, has resulted in markedly improved outcomes at a cognitive and psychiatric level for individuals with PKU. However, few individuals can maintain full dietary control lifelong, and even with good control, an elevated risk remains of—in particular—mood, anxiety, and attentional disorders across the lifespan. Increasingly, dietary recommendations focus on maintaining continuous dietary treatment lifelong to optimize psychiatric and cognitive outcomes, although the effect of long-term protein restricted diets on brain function remains unknown. While psychiatric illness is very common in adult PKU populations, very little data exist to guide clinicians on optimal treatment. The advent of new treatments that do not require restrictive dietary management, such as the enzyme therapy Pegvaliase, holds the promise of allowing patients a relatively normal diet alongside optimized mental health and cognitive functioning.

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Section: Case Vignettesmentioning

confidence: 99%

Psychiatric and Cognitive Aspects of Phenylketonuria: The Limitations of Diet and Promise of New Treatments

et al. 2019

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“…Interestingly, patients/caregivers reported more problems with low-Phe products than with Phe-free formulas, but it was less difficult for most patients to adhere to the diet during the lockdown than before. Assuming that this was the reality, that is, due to objective or subjective causes, e.g., pandemic-related stress and not exclusively the patients’ feelings, it could have impacted their diet and deteriorated problems related to vitamin and mineral intake already observed in the pre-pandemic period [ 13 , 14 , 15 , 16 , 17 ]. Moreover, these issues together with general changes in food consumption observed during the pandemic could have influenced energy and metabolic balance, increasing overweight and obesity problems observed in patients with PKU [ 18 , 19 ].…”

Section: Discussionmentioning

confidence: 99%

Phenylketonuria Patients’ and Their Caregivers’ Perception of the Pandemic Lockdown: The Results of a National Online Survey

et al. 2022

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The first pandemic lockdown dramatically impacted many aspects of everyday life, including healthcare systems. The purpose of this study was to identify problems of patients with phenylketonuria (PKU) and their parents/caregivers during that time. We aimed to analyse potential differences in the self-reported compliance and characteristics of contacts with a doctor/dietitian before and during the pandemic lockdown and the perception of access to special food and opinions on remote contacts between a particular group of respondents. All participants (n = 614) were asked to complete an online questionnaire that consisted of 31 questions on pandemic-related events and circumstances which may have directly or indirectly impacted health and treatment. The people who completed the survey were divided into three groups: parents of PKU children (n = 403), parents of PKU adults (n = 58) and PKU patients older than 16 years (n = 153). The differences among the three analysed groups were found in the number of contacts, the way of contacting a doctor/dietitian during the pandemic and satisfaction with remote contact. Caregivers of children with PKU reported better therapy compliance, more frequent contacts with specialists and more satisfaction with remote visits than adult patients. We also observed a relationship between satisfaction from remote contact and self-reported frequency of contacts with a doctor/dietitian, as well as a relationship between satisfaction from remote contact and recommended blood Phe levels reported by both patients and caregivers. Travel time exceeding three hours from the respondents’ location to their doctor was associated with higher odds of their recognition of remote contact as a method of PKU treatment only in the group of caregivers. In the caregiver groups, the reported worse access to low-Phe products during the lockdown was linked to the perceived difficulty of maintaining the diet. However, such a relationship was not found among patients. In conclusion, significant differences in the perception of the pandemic lockdown and its impact on health and treatment-related issues were found.

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“…Phenylketonuria (PKU) is the most prevalent inborn error in amino acid metabolism. − PKU is characterized by an impaired activity of the enzyme phenylalanine hydroxylase (PAH), resulting in a complete or partial inability of the enzyme to convert l -phenylalanine (Phe) to l -tyrosine. Deficiency of the PAH enzyme results in increased levels of Phe in the blood (hyperphenylalaninemia). − The accumulation of Phe can lead to intellectual impairment, microcephaly, seizures, and motor deficits. ,, Early diagnosis through neonatal screening and rapid therapeutic implementation are essential to prevent these possible complications . The therapeutic approach for PKU is based on a lifelong Phe-restricted diet, with a low intake of natural proteins …”

Section: Introductionmentioning

confidence: 99%

“…The existing literature is ambiguous about the prevalence of long-chain PUFA deficiency in patients with PKU. However, some studies have shown a significant decrease in important PUFA, such as docosahexaenoic acid (DHA, 22:6 n – 3), eicosapentaenoic acid (EPA, 20:5 n – 3) and arachidonic acid (AA, 20:4 n – 6), in patients with PKU who maintained a Phe-restricted diet (with no information available on PUFA supplementation). − These reduced levels have been associated with dietary restrictions, as PKU patients do not consume foods of animal origin rich in PUFA. ,, The low dietary intake of long-chain PUFA is thought to be the main cause of the decrease in the levels of DHA, EPA and AA, as their endogenous synthesis is very low. , …”

Section: Introductionmentioning

confidence: 99%

“…4−6 The accumulation of Phe can lead to intellectual impairment, microcephaly, seizures, and motor deficits. 2,7,8 Early diagnosis through neonatal screening and rapid therapeutic implementation are essential to prevent these possible complications. 9 The therapeutic approach for PKU is based on a lifelong Pherestricted diet, with a low intake of natural proteins.…”

Section: Introductionmentioning

confidence: 99%

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Plasma Phospholipidomic Profile Differs between Children with Phenylketonuria and Healthy Children

et al. 2021

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Phenylketonuria (PKU) is a disease of the catabolism of phenylalanine (Phe), caused by an impaired function of the enzyme phenylalanine hydroxylase. Therapeutics is based on the restriction of Phe intake, which mostly requires a modification of the diet. Dietary restrictions can lead to imbalances in specific nutrients, including lipids. In the present study, the plasma phospholipidome of PKU and healthy children (CT) was analyzed by hydrophilic interaction liquid chromatography–tandem mass spectrometry and gas chromatography–mass spectrometry. Using this approach, 187 lipid species belonging to nine different phospholipid classes and three ceramides were identified. Principal component analysis of the lipid species data set showed a distinction between PKU and CT groups. Univariate analysis revealed that 146 species of phospholipids were significantly different between both groups. Lipid species showing significant variation included phosphatidylcholines, containing polyunsaturated fatty acids (PUFA), which were more abundant in PKU. The high level of PUFA-containing lipid species in children with PKU may be related to a diet supplemented with PUFA. This study was the first report comparing the plasma polar lipidome of PKU and healthy children, highlighting that the phospholipidome of PKU children is significantly altered compared to CT. However, further studies with larger cohorts are needed to clarify whether these changes are specific to phenylketonuric children.

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Deficiency of long-chain polyunsaturated fatty acids in phenylketonuria: a cross-sectional study

Cited by 7 publications

References 24 publications

Psychiatric and Cognitive Aspects of Phenylketonuria: The Limitations of Diet and Promise of New Treatments

Psychiatric and Cognitive Aspects of Phenylketonuria: The Limitations of Diet and Promise of New Treatments

Phenylketonuria Patients’ and Their Caregivers’ Perception of the Pandemic Lockdown: The Results of a National Online Survey

Plasma Phospholipidomic Profile Differs between Children with Phenylketonuria and Healthy Children

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