Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance

Kreile, Madara; Ļubina, Olga; Ozola-Zālīte, Imanta; Lugovska, Rita; Pronina, N.; Sterna, Olga; Vēvere, Pārsla; Konika, M.; Malniece, Ieva; Gailīte, Linda

doi:10.1016/j.ymgmr.2020.100671

Cited by 4 publications

(4 citation statements)

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“…Poor adherence in adolescent and adult PKU patients was also reported by Jurecki et al who observed a suboptimal adherence to the recommended Phe concentrations [ 14 ]. At present, there is a significant lack of information on the nutritional status of Latvian adolescent and adult (over the age of 18) PKU patients [ 15 ]. The reason for this is their non-compliance with completing a 72-h FD.…”

Section: Discussionmentioning

confidence: 99%

“…In some patients, their Phe levels were above 360 mmol/l; therefore, their intake of natural protein could not be as low as detailed in their FD. [ 15 ] Additionally, inconsistencies were seen with BMI and FD data on CHO and total energy intakes. Specifically, three obese patients reported CHO and total energy intakes that were lower than the values recommended by the MHRL.…”

Section: Discussionmentioning

confidence: 99%

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Nutrient Status among Latvian Children with Phenylketonuria

Lubina,

Gailite,

Borodulina

et al. 2023

Children

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(1) Introduction: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism. The main treatment for PKU is to manage nutrition, thereby restricting phenylalanine intake. Part of patient management is analyzing eating habits to substitute missing nutrients and limit the overdose of nutrients. This is mainly done by analyzing food diaries. This is the first review of Latvian PKU patients eating habits performed by analyzing 72-h food diaries (FD). (2) Materials and Methods: This study included individuals between the ages of 18 and 31 years, PKU patients and 31 age- and sex-matched control groups. All respondents kept 72-h food diaries (FD) and underwent testing for zinc, selenium and ferritin levels in the blood. Food diary data were analyzed by Nutritics software to calculate the theoretical intake of nutrients, and these values were compared with the Ministry of Health of the Republic of Latvia’s recommended values. (3) Results: A lack of motivation and diet therapy compliance in PKU patients was observed during this research. A total of 32% of PKU patients refused to fill out their FD or filled it out incorrectly. The analysis of nutrient intake was observed, and there was a statistically significant difference between PKU patients in the 1–3 age group and the control group in fat intake. Fat intake in PKU patients was below MRHL recommendations. The intake of iron was found to be surplus in all PKU patients in the age group of 1–3, 91% of PKU patients in the age group of 4–6 years, 63% in the age group of 7–12 and 71% in the 13–18 year age group. Although there were no instances in the PKU patients nor the control group who had ferritin levels above the normal range. Selenium intake was surplus in 80% of PKU patients in the 1–3 age group, 91% in PKU patients in the 4–6 age group, 88% in the 7–12 age group and 86% in the 13–18 age group. None of the patients had Se levels in the blood above the normal range. Zn intake was surplus in 100% of PKU patients in the 1–3 age group, 82% in PKU patients in the 4–6 age group, 88% in the 7–12 age group and 57% in the 13–18 age group, and no PKU patients had high Zn levels. None of the control group participants had levels below the normal range of Zn and Se while 11% of PKU patients in the 13–18 age group had inadequate levels of Se, although Se intake based on their FD was optimal. (4) Conclusions: Regular PKU patient nutritional status evaluation is important to define and prevent possible nutrient deficiency, and further investigation should be continued to find out the mechanism of nutrient absorption in PKU patients. To prevent macronutrient deficiency such as fat and micronutrient deficiency in PKU patients, one could use supplements or try an improved nutrient content of Phe-free formula in the future.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Nutrient Status among Latvian Children with Phenylketonuria

Lubina,

Gailite,

Borodulina

et al. 2023

Children

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“…The blood sample is tested in a laboratory to determine if it has too much phenylalanine in it.) [ 23 ]. The inclusion criteria for patients in the control group were as follows: healthy individuals matched by age and gender with the T1D and PKU groups, not following any specific diet, no chronic diseases, and seen for regular dentist checkups.…”

Section: Methodsmentioning

confidence: 99%

Oral Microbiome Traits of Type 1 Diabetes and Phenylketonuria Patients in Latvia

et al. 2023

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Some metabolic disorder treatments require patients to follow a specific diet or to consume supplements that, over time, can lead to oral microbiome alterations. Well-known disorders requiring such treatment are phenylketonuria (PKU), an inborn error of amino acid metabolism, and type 1 diabetes (T1D), a metabolic disorder that requires a specific diet regimen. Therefore, the aim of this study was to investigate the oral health and microbiome characteristics that might contribute to caries activity and periodontal disease risk in PKU and T1D patients. In this cross-sectional study, 45 PKU patients, 24 T1D patients, and 61 healthy individuals between the ages of 12 and 53 years were examined. Their anamnestic data and dental status were assessed by one dentist. Microbial communities were detected from saliva-isolated DNA using 16S rRNA gene V3–V4 sequencing on Illumina MiSeq sequencing platform. Results revealed that the PKU patient group displayed the highest number of extracted teeth (on average 1.34), carious teeth (on average 4.95), and carious activity (44.44% of individuals) compared to the T1D and CTRL groups. The lowest numbers of filled teeth (on average 5.33) and extracted teeth (on average 0.63) per individual were observed in T1D patients. Gingivitis appeared more often in the T1D group; however, possible risk of periodontal disease was seen in both the T1D and PKU patient groups. The highest number of differentially abundant genera was detected in the PKU group (n = 20), with enrichment of Actinomyces (padj = 4.17 × 10−22), Capnocytophaga (padj = 8.53 × 10−8), and Porphyromonas (padj = 1.18 × 10−5) compared to the CTRL group. In conclusion, the dental and periodontal health of PKU patients was found to be significantly inferior compared to T1D patients and healthy controls. T1D patients showed early signs of periodontal disease. Several genera that correlate with periodontal disease development were found in both groups, thus suggesting that T1D and PKU patients should seek early and regular dental advice and be educated about proper oral hygiene practices.

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“…PKU is a metabolic condition in which the inability to degrade phenylalanine (Phe), an essential amino acid, results in irretrievable psychological retardation unless treated early. As a result, early detection and dietary treatment through new-born screening program, the negative impacts such as mental retardation of the disease can be largely eliminated [8,9]. For establishing new-born screening programs of PKU patients in the United Kingdom, Robert Guthrie developed a classical method for the detection of high levels of Phe in blood shortly after a baby born by using a bacterial inhibition assay [10].…”

Section: World-wide New-born Screening Programmentioning

confidence: 99%

Current Scenario and Future Direction of Newborn Screening and Management Program for Phenylketonuria in Bangladesh

Al-Bari

2022

J. inborn errors metab. screen.

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Phenylketonuria (PKU) is a correctable inborn error of metabolism which causes lethal intellectual delay and neurobehavioral anomalies. A screening package, especially for early recognition can support to regulate the PKU process of most patients. Newborn screening program in any country focuses at the earliest detection of inheritance deficiency disorders in order to avoid the most severe repercussion by appropriate medication. This screening program needs a concomitant diagnosis and involves additional clinical research. Strategies from developed countries recommend that new-born screening should be done as soon as possible after birth before hospital/clinic discharge because if detected later, it conveys to significantly increase in disability as well as morbidity. Although exact protocol differs among different countries, testing procedures for PKU should be followed universally recognized in the developed world. Unfortunately, new-born screening program in Bangladesh is in lying-in room or possibly in pilot study in particular hospital, because the health-care system is classically targeted mortality (like childbirth complications) and transmittable morbidities (such as COVID-19) but not inborn frailties. Although policies and management of childbirth complications have been successfully lowered infant and mother mortality rates, the number of disabled babies increased tremendously. The study aims to investigate the current status of new-born screening (NBS) program of PKU in the Rajshahi Division Bangladesh, and focus on future plans to manage with life-long treatment. The primary challenges such as financial support for newborn screening, publicity, should be identified and implemented for national PKU-NBS policy as a role model of Bangladesh for developing countries.

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Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance

Cited by 4 publications

References 18 publications

Nutrient Status among Latvian Children with Phenylketonuria

Nutrient Status among Latvian Children with Phenylketonuria

Oral Microbiome Traits of Type 1 Diabetes and Phenylketonuria Patients in Latvia

Current Scenario and Future Direction of Newborn Screening and Management Program for Phenylketonuria in Bangladesh

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