Abstract:To avoid potentially severe outcomes, phenylketonuria (PKU) must be detected as soon as possible after birth and managed with life-long treatment. A questionnaire-based survey was performed to document diagnosis and management practices for PKU in a region of Southern and Eastern Europe. Prevalence and management data were obtained from 37/59 (63 %) centres within 19/22 (86 %) contacted countries (N = 8600 patients). The main results’ analysis was based on completed questionnaires obtained from 31 centres (53 … Show more
“…It is an example of personalised medicine, which will most likely become medicine of the future. The role of newborn screening in reducing mortality in children and in providing specialist care for patients with inborn errors of metabolism has been emphasised by many authors [4,9,10]. Our analysis demon-strates that hospitalisations of patients after the second year of life were close to zero, which results from the specific characteristics of some of the disease entities whose treatment only rarely requires hospitalisation.…”
Section: Discussionmentioning
confidence: 77%
“…If left untreated, the disease damages the central nervous system, leading to intellectual disability and various neurological problems [1,2]. A rapid diagnosis and treatment are of key importance for the child's development [3][4][5].…”
The present analysis has been prepared as part of the mapping of health needs in metabolic disorders, Abstract Introduction: Patients with disorders of aromatic amino acid metabolism are a heterogeneous group. They vary in morbidity and medical care requirements. Polish newborn screening program allows for quick diagnosis of some inborn errors of metabolism (such as classical phenylketonuria, mild hyperphenylalaninemias, tyrosinemia type 1 and tyrosinemia type 2) and subsequent immediate treatment. The aim of the study: To evaluate the effect of the Polish public healthcare system in terms of management and access to health care services for children and adults with disorders of aromatic amino acid metabolism. Material and methods: The analysis was based on the National Health Fund (NFZ) reporting data for 2009-2015. The analysis included patients with disorders of aromatic amino acid metabolism converting ICD-10 coding according to the International Classification of Diseases. The analysis covered patients with codes E70, E70.0, E70.1, E70.2, E70.3, E70.8, E70.9. The analysis was prepared as part of the mapping of health needs in metabolic diseases, http://www.mapypotrzebzdrowotnych.mz.gov.pl/. Results: In 2009-2015, 4090 patients with disorders of aromatic amino acid metabolism were registered in the NFZ system. The largest number of patients were hospitalized and registered in outpatient specialistic care (AOS) in the first year of life. After the second year of life, the number of hospitalized patients was almost zero, and the number of children (< 18 years) with AOS according to age was stable. After the 18 years of age the number of patients in the AOS gradually decreased. The population of patients aged 0-28 years accounted for 99% of all cases, after 28 years of age were only one percent of the total population. There were 95 deaths, the average age of death was 77 years. In the whole study group the highest number of deaths was recorded after 70 years of age, 21% of all deaths were reported in both working-age patients children (2 deaths). Patients with classical phenylketonuria were the most commonly reported in the AOS. 22% of patients were coded with ICD-10 as E70 without extension. Conclusions: Children aged 0-18 years with disorders of amino acid metabolism had full access to a well-organized specialized medical care system in Poland. In contrast, care for adult patients with the disorders was limited. It is necessary to properly code the disease using ICD-10 extension codes in order to avoid inconsistency in data reporting or misdiagnosis. Key words: inborn errors of metabolism, aromatic amino acids, medical care, phenylketonuria. Medical care on patients with disorders of aromatic amino acid metabolism Opieka medyczna nad chorymi z zaburzeniami przemiany aminokwasów aromatycznych Pediatr Endocrinol Diabetes Metab 2018 119
“…It is an example of personalised medicine, which will most likely become medicine of the future. The role of newborn screening in reducing mortality in children and in providing specialist care for patients with inborn errors of metabolism has been emphasised by many authors [4,9,10]. Our analysis demon-strates that hospitalisations of patients after the second year of life were close to zero, which results from the specific characteristics of some of the disease entities whose treatment only rarely requires hospitalisation.…”
Section: Discussionmentioning
confidence: 77%
“…If left untreated, the disease damages the central nervous system, leading to intellectual disability and various neurological problems [1,2]. A rapid diagnosis and treatment are of key importance for the child's development [3][4][5].…”
The present analysis has been prepared as part of the mapping of health needs in metabolic disorders, Abstract Introduction: Patients with disorders of aromatic amino acid metabolism are a heterogeneous group. They vary in morbidity and medical care requirements. Polish newborn screening program allows for quick diagnosis of some inborn errors of metabolism (such as classical phenylketonuria, mild hyperphenylalaninemias, tyrosinemia type 1 and tyrosinemia type 2) and subsequent immediate treatment. The aim of the study: To evaluate the effect of the Polish public healthcare system in terms of management and access to health care services for children and adults with disorders of aromatic amino acid metabolism. Material and methods: The analysis was based on the National Health Fund (NFZ) reporting data for 2009-2015. The analysis included patients with disorders of aromatic amino acid metabolism converting ICD-10 coding according to the International Classification of Diseases. The analysis covered patients with codes E70, E70.0, E70.1, E70.2, E70.3, E70.8, E70.9. The analysis was prepared as part of the mapping of health needs in metabolic diseases, http://www.mapypotrzebzdrowotnych.mz.gov.pl/. Results: In 2009-2015, 4090 patients with disorders of aromatic amino acid metabolism were registered in the NFZ system. The largest number of patients were hospitalized and registered in outpatient specialistic care (AOS) in the first year of life. After the second year of life, the number of hospitalized patients was almost zero, and the number of children (< 18 years) with AOS according to age was stable. After the 18 years of age the number of patients in the AOS gradually decreased. The population of patients aged 0-28 years accounted for 99% of all cases, after 28 years of age were only one percent of the total population. There were 95 deaths, the average age of death was 77 years. In the whole study group the highest number of deaths was recorded after 70 years of age, 21% of all deaths were reported in both working-age patients children (2 deaths). Patients with classical phenylketonuria were the most commonly reported in the AOS. 22% of patients were coded with ICD-10 as E70 without extension. Conclusions: Children aged 0-18 years with disorders of amino acid metabolism had full access to a well-organized specialized medical care system in Poland. In contrast, care for adult patients with the disorders was limited. It is necessary to properly code the disease using ICD-10 extension codes in order to avoid inconsistency in data reporting or misdiagnosis. Key words: inborn errors of metabolism, aromatic amino acids, medical care, phenylketonuria. Medical care on patients with disorders of aromatic amino acid metabolism Opieka medyczna nad chorymi z zaburzeniami przemiany aminokwasów aromatycznych Pediatr Endocrinol Diabetes Metab 2018 119
“…Most of the cross-cultural evaluations currently published review diagnostic and management perspectives in various countries [32–35]. The availability of the PKU-QOL questionnaire in eight countries (i.e., France, Germany, Italy, The Netherlands, Spain, Turkey, UK and the US) will encourage cross-cultural research in PKU, and will be the first step to wider development and use in various cultural settings.…”
BackgroundPhenylketonuria (PKU) is a rare genetic disorder caused by a defect in the metabolism of phenylalanine (PHE) resulting in elevated blood and brain PHE levels, and leading to cognitive, emotional, and psychosocial problems. The phenylketonuria – quality of life (PKU-QOL) questionnaire was the first self-administered disease-specific instrument developed to assess the impact of PKU and its treatment on the health-related quality of life (HRQL) of patients and their caregivers. Available in four versions (child, adolescent, adult and parent), the PKU-QOL was simultaneously developed and validated in seven countries [i.e., France, Germany, Italy, The Netherlands, Spain, Turkey and the United Kingdom (UK)]. The objectives of our study were to develop and linguistically validate the PKU-QOL questionnaire for use in the United States (US).MethodsThe UK versions served as a basis for the development of the US English PKU-QOL questionnaire. The linguistic validation process consisted of 4 steps: 1) adaptation of the UK versions into US English by a translator native of US English and living in the US; 2) a clinician review; 3) cognitive interviews with patients and caregivers to test the appropriateness, understandability and clarity of the US translations; and 4) two proof-readings.ResultsThe adaptation from UK to US English revealed the usual syntactic and idiomatic differences between the two languages, such as differences in: 1) Spelling, e.g., “dietician” (UK) vs. “dietitian” (US), or “mum” (UK) vs. “mom” (US); 2) Syntax or punctuation; and 3) Words/expressions use, e.g., “holidays” (UK) vs. “vacation” (US), or “biscuits” (UK) vs. “crackers” (US). The major issue was cultural, and consisted of using a different terminology to describe PKU treatment throughout the questionnaires. The clinician, with the patients and the caregivers, during the interviews suggested to replace “supplement and amino-acid mixture” or “supplements” with “medical formula.” This wording was later changed to “medical food” to be consistent with the terminology used in current US published guidelines.ConclusionsThe translation of the UK English PKU-QOL questionnaire into US English did not raise critical semantic and cultural issues. The PKU-QOL will be valuable for US healthcare providers in individualizing treatment and managing patients with PKU.
“…The study group comprised of 20 subjects (13 females and 7 males) aged 15 -34 years with classical PKU from the department of pediatric gastroenterology and metabolic Inclusion criteria were defined as: the diagnosis of classical PKU based on the result of national newborn screening and confirmed by molecular tests (15,16), aged 15 years or older, and willingness to participate in the study. Exclusion criteria were: non-classical forms of PKU (mild PKU, maternal PKU, mild hyperphenylalaninemia, BH4 deficiency) and pregnancy.…”
Background: Although the activity of the cytosolic hepatic enzyme phenylalanine hydroxylase is impaired in phenylketonuria (PKU), the microsomal function, necessary for the metabolism of xenobiotics, has never been assessed. The aim of the study was to assess the microsomal liver function in PKU patients by 13C-methacetin breath test (13C-MBT), which measures cytochrome P450 activity.
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