Clinical and electrophysiological findings in patients with phenylketonuria and epilepsy: Reflex features

Çelik, Şenay Yıldız; Bebek, Nerses; Gürses, Candan; Baykan, Betül; Gökyiğit, Ayşen

doi:10.1016/j.yebeh.2018.02.024

Cited by 10 publications

(4 citation statements)

References 18 publications

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“…For a detailed discussion of the amino acid catabolism and its associated diseases, which is beyond the scope of this review, we would refer the interested reader to other excellent literature sources. − Phenylketonuria (PKU) is the most common congenital disorder of the amino acid metabolism and is characterized by abnormal concentrations of phenylalanine (Phe) in the body . On the basis of plasma concentrations of Phe, different types of PKU can be classified, namely classical PKU (c(Phe) > 1200 μM), moderate PKU (600 μM < c(Phe) < 1200 μM), and hyperphenylalaninemia (Phe = 120–600 μM). , When untreated, PKU can lead to intellectual disability, seizures, behavioral problems, and psychological disorders. , Tyrosinemia type 1 is an example of impaired tyrosine catabolism that is characterized by elevated levels of tyrosine in the blood and can lead to liver, kidney, and peripheral nerve damage if left untreated. ,, Tryptophan (Trp) is another essential amino acid that both itself as well as its metabolites are directly or indirectly involved in many physiological processes, including neuronal functions, immunity, and gut homeostasis. − Because of the strong link between altered tryptophan metabolism and physiology, abnormal Trp concentrations in biofluids such as plasma, serum, and urine are considered as potential biomarkers that can be associated with disorders of the central nervous system such as psychiatric and neurological diseases. ,, Abnormal levels of histidine and its metabolites are associated with diseases such as aging-related disorders, metabolic syndrome, atopic dermatitis, ulcers, inflammatory bowel diseases, ocular diseases, and neurological disorders . For example, it was reported by the Zhai group that the ratio of branched-chain amino acids to histidine can potentially be used as a biomarker for osteoarthritis .…”

Section: Amino Acidsmentioning

confidence: 99%

Molecular Probes, Chemosensors, and Nanosensors for Optical Detection of Biorelevant Molecules and Ions in Aqueous Media and Biofluids

et al. 2022

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Synthetic molecular probes, chemosensors, and nanosensors used in combination with innovative assay protocols hold great potential for the development of robust, low-cost, and fast-responding sensors that are applicable in biofluids (urine, blood, and saliva). Particularly, the development of sensors for metabolites, neurotransmitters, drugs, and inorganic ions is highly desirable due to a lack of suitable biosensors. In addition, the monitoring and analysis of metabolic and signaling networks in cells and organisms by optical probes and chemosensors is becoming increasingly important in molecular biology and medicine. Thus, new perspectives for personalized diagnostics, theranostics, and biochemical/ medical research will be unlocked when standing limitations of artificial binders and receptors are overcome. In this review, we survey synthetic sensing systems that have promising (future) application potential for the detection of small molecules, cations, and anions in aqueous media and biofluids. Special attention was given to sensing systems that provide a readily measurable optical signal through dynamic covalent chemistry, supramolecular host− guest interactions, or nanoparticles featuring plasmonic effects. This review shall also enable the reader to evaluate the current performance of molecular probes, chemosensors, and nanosensors in terms of sensitivity and selectivity with respect to practical requirement, and thereby inspiring new ideas for the development of further advanced systems.

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Section: Amino Acidsmentioning

confidence: 99%

Molecular Probes, Chemosensors, and Nanosensors for Optical Detection of Biorelevant Molecules and Ions in Aqueous Media and Biofluids

et al. 2022

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“…Late-diagnosed patients or patients with poor metabolic control during infancy usually present with early onset developmental delay, reduced intelligence and/or seizures that trigger diagnosis of PKU not necessarily coinciding with the presence of any other neurological symptoms or signs [1,36]. If these patients are diagnosed and treated in childhood, neurological deficits, such as tremor, ataxia, seizures, paraparesis, stereotypies and tics, can still occur in adulthood after a period of treatment discontinuation [1,25,34,36,47,50,51]. In some cases, these late-onset complications can be severely disabling and progressively worsening, not only in late-diagnosed but also in early treated AwPKU upon early treatment discontinuation in childhood or adolescence [25,34,36].…”

Section: In Some Cases Neurological Signs and Symptoms Can Develop Sl...mentioning

confidence: 99%

“…Although latencies are not always predictive of neurological signs and symptoms, they do seem to correlate with the level of metabolic control [23,73]. Lastly, an electroencephalogram should be performed in patients with suspected seizures or a history of seizures [51].…”

Section: Early Treated Adults With Pku Who Have Been Lost To Follow-u...mentioning

confidence: 99%

Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion

et al. 2023

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Objective Phenylketonuria (PKU) is a rare inherited metabolic disorder characterised by elevated phenylalanine (Phe) concentrations that can exert neurotoxic effects if untreated or upon treatment discontinuation. This systematic review supported by expert opinion aims to raise awareness among the neurological community on neurological complications experienced by adults with PKU (AwPKU). Methods The PubMed database was searched for articles on neurological signs and symptoms in AwPKU published before March 2022. In addition, two virtual advisory boards were held with a panel of seven neurologists and two metabolic physicians from Germany and Austria. Findings are supported by three illustrative patient cases. Results Thirty-nine articles were included. Despite early diagnosis and treatment, neurological signs and symptoms (e.g. ataxia, brisk tendon reflexes, tremor, visual impairment) can emerge in adulthood, especially if treatment has been discontinued after childhood. In PKU, late-onset neurological deficits often co-occur with cognitive impairment and psychiatric symptoms, all of which can be completely or partially reversed through resumption of treatment. Conclusion Ideally, neurologists should be part of the PKU multidisciplinary team, either to bring lost to follow-up patients back to clinic or to manage symptoms in referred patients, considering that symptoms are often reversible upon regaining metabolic control. The current findings have been combined in a leaflet that will be disseminated among neurologists in Germany and Austria to create awareness.

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“…If left untreated, PKU is associated with severe intellectual disability. In countries without a neonatal screening program, PKU is one of the most common causes of mental retardation in children [ 1 , 2 ]. The global prevalence of PKU is1:23,930 live births, however, there is a considerable variation across ethnicities and geographic regions worldwide [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

Improving phenylalanine and micronutrients status of children with phenylketonuria: a pilot randomized study

Zamani

Karimi‐Shahanjarini

Tapak

et al. 2021

Orphanet J Rare Dis

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Background Children with Phenylketonuria (PKU) need a special diet to avoid a variety of physical and psychological complications. The aim of this study was to compare and assess the effects of two interventions on and levels of phenylalanine and micronutrients in children with PKU. Methods Forty-six children with PKU (ages 1–12 years) and their caregivers were randomly assigned to one of two 10-week interventions: a caregiver educational intervention based on the Integrative Model of Behvioral Prediction (IMBP) and supplementary low-protein-modified foods. Outcomes consisted of Children's plasma phenylalanine and micronutrients (i.e., vitamin B12, vitamin D3, and zinc) and hemoglobin levels. To assess the sustainability of outcomes, we also compared the children’s phenylalanine level at five-time points including baseline and 10-week, 6 months, 12 months, and 24 months follow-ups. In addition, caregivers of both groups were asked to complete a questionnaire to assess how well the interventions were implemented as well as satisfaction with interventions. Results While a large percentage of children had phenylalanine levels out of range indicating non-adherence (69.6% and 81% in the educational and food items group, respectively), micronutrient deficiencies were not prevalent in the patient cohort. The levels of phenylalanine in both groups decreased significantly over time. However, conducting a repeated-measures ANOVA to evaluating the change in groups across five-time points, revealed a significant difference between groups (F = 4.68, p = 0.03). That is, the educational intervention was more effective in lowering the children's phenylalanine level. At 24-month follow-up, the percentage of children with a normal range of phenylalanine level in the educational and food items groups increased to 73.9 and 57.1 percent, respectively, from 26 and 38 percent at baseline. There were no significant changes in children's micronutrients level following the interventions, except in the hemoglobin. In this way, at 10-week follow-up, the mean hemoglobin of children in the educational group reduced significantly (P = 0.041). However, there was no significant difference between the two groups. In general, all caregivers completed the process evaluation checklist, the feedback was largely positive. Conclusions The results of this study demonstrated that both educational and providing food item interventions resulted in a significant reduction in phenylalanine levels. Empowering caregivers of patients, creating and fortifying social networks, providing favorable social supports, and providing access to special food items may be effective in controlling PKU. Clinical trial registration: Iranian Registry of Clinical Trials (IRCT20180506039548N1). Registered 6th Jun 2018, https://www.irct.ir/trial/30977.

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Clinical and electrophysiological findings in patients with phenylketonuria and epilepsy: Reflex features

Cited by 10 publications

References 18 publications

Molecular Probes, Chemosensors, and Nanosensors for Optical Detection of Biorelevant Molecules and Ions in Aqueous Media and Biofluids

Molecular Probes, Chemosensors, and Nanosensors for Optical Detection of Biorelevant Molecules and Ions in Aqueous Media and Biofluids

Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion

Improving phenylalanine and micronutrients status of children with phenylketonuria: a pilot randomized study

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