Lezzet algısı kimyasal, hormonal ve sinirsel uyarılarla oluşan, birçok organ ve hormonun etkili olduğu karmaşık bir sistemdir. Lezzet algısı genel olarak hissedilen tat, koku, doku ve görsel uyarıların bir bütünü olarak değerlendirilmektedir. Yaş, cinsiyet, hastalıklar, psikolojik durum, gebelik, obezite varlığı, sigara kullanımı, sosyokültürel etmenler, beslenme ve besin ögeleri gibi birçok çevresel ve genetik faktöre göre değişiklik göstermektedir. Bu algı besin tercihleri ve besin tüketimini etkileyen önemli bir faktördür. Acı, tatlı, ekşi, tuzlu ve umami tatları dışında yağ, nişasta ve metalik tatlar lezzet algısını etkilemektedir. Lezzet algısı, tat algılamada görevli reseptörleri üreten genlerde bulunan genetik polimorfizmlerle kısmen açıklanabilmekte ve bireyler arasında büyük farklılıklar göstermektedir. Bu tatların algılanmasında TAS1R, TAS2R, CA6, TRPV, SCNN, PKD1 gibi gen aileleri ve reseptörler etkili olmaktadır. Bu nedenle lezzet algısının genetik ve çevresel faktörlerinin daha iyi anlaşılması için kaliteli çalışmaların artması gerekirken, bu konu besin tercihlerinin anlaşılması ve çağımızın sorunu beslenme kökenli hastalıklarla mücadele konusunda büyük önem taşımaktadır.
Nüfusun artmasıyla birlikte beslenmeye bağlı problemlerin de artacağı düşünülmekte ve alternatif besin kaynakları aranmaktadır. Algler büyük biyokütleleri ve zengin biyoçeşitlilikleri ile alternatif kaynaklar arasında gösterilmektedir. Türlerine ve çevresel şartlara göre değişmekle birlikte yüksek miktarda makro ve mikro besin ögelerini üretebilmektedir. Özellikle protein ve esansiyel aminoasitler, eikosapentaenoik asit, dokosaheksaenoik asit, antioksidan vitaminler, demir ve iyot yönünden oldukça zengindir. Aynı zamanda antioksidanlar, fenolik bileşikler, polisakkaritler ve lutein gibi birçok biyoaktif madde içermektedir. Bu sayede sağlığın geliştirilmesi ve hastalıkların önlenmesi konusunda bazı toplumlarda alternatif olarak kullanılmaktadır. Bunun yanında ağır metal, toksinler, alerjen etmenler gibi olumsuz etkileri olabilmektedir. Alglerden en yüksek düzeyde faydalanılabilmesi için bu alanda bilimsel araştırmaların arttırılması, risk analizlerinin yapılması, mevzuatların oluşturulması ve küresel politikaların geliştirilmesi gerekmektedir.
<b><i>Introduction:</i></b> Chronic haemolytic anaemia, increased susceptibility to infections, cardiomyopathy, neurodegeneration, and death in early childhood are the clinical findings of triosephosphate isomerase (TPI) deficiency, which is an ultra-rare disorder. The clinical and laboratory findings and the outcomes of 2 patients with TPI deficiency are reported, with a review of cases reported in the literature. <b><i>Case Presentation:</i></b> Two unrelated patients with haemolytic anaemia and neurologic findings who were diagnosed as having TPI deficiency are presented. Neonatal onset of initial symptoms was observed in both patients, and the age at diagnosis was around 2 years. The patients had increased susceptibility to infections and respiratory failure, but cardiac symptoms were not remarkable. Screening for inborn errors of metabolism revealed a previously unreported metabolic alteration determined using tandem mass spectrometry in acylcarnitine analysis, causing elevated propionyl carnitine levels in both patients. The patients had p.E105D (c.315G>C) homozygous mutations in the <i>TPI1</i> gene. Although severely disabled, both patients are alive at the ages of 7 and 9 years. <b><i>Discussion:</i></b> For better management, it is important to investigate the genetic aetiology in patients with haemolytic anaemia with or without neurologic symptoms who do not have a definitive diagnosis. The differential diagnosis of elevated propionyl carnitine levels using tandem mass spectrometry screening should also include TPI deficiency.
Objectives Maple syrup urine disease (MSUD) is an inborn metabolic disease. The nutritional treatment with restricted intake of branched chain amino acids and prevention of leucine toxicity are crucially important for a favorable outcome. The aim of this study is to analyze the relation of blood leucine levels at diagnosis with future leucine tolerances, to determine whether any prediction about the future leucine tolerances or plasma leucine levels is possible by evaluating blood leucine levels at diagnosis. Methods The study group consisted of 45 MSUD patients. Leucine levels at diagnosis were compared with age at diagnosis, leucine tolerances, maximum leucine levels/ages, and average blood leucine levels. Results The mean plasma leucine level at diagnosis was 2,355.47 ± 1,251.7 μmol/L (ref: 55–164 μmol/L). The median age at diagnosis was 17 days. Leucine tolerances per kg body weight declined until the age of 8 years and stabilized subsequently. The average age of maximum leucine level during follow-up was 3.14 ± 1.92 years, and the mean maximum lifetime plasma leucine level on follow-up was 1,452.13 ± 621.38 μmol/L. The leucine levels at diagnosis did not have any significant relationship with lifetime leucine tolerances, maximum plasma leucine levels or mean plasma leucine levels. Conclusions The plasma leucine levels at diagnosis did not have a predictive value for later leucine tolerances or plasma leucine levels. The maximum lifetime leucine level is likely to happen within the first 3 years of life, underlining the importance of good metabolic control and compliance to dietary treatment at early ages.
Background: Special low protein foods (SLPF) that are phenylalanine (Phe)-free or have a low Phe content are an integral part of PKU diet therapy. Aim: The aim of this study is to determine the nutritional profiles of SLPFs used in Turkey and to compare their contents with equivalent products in the “regular” category, in order to evaluate nutritional and metabolic risks. Methods: Between February and March 2022, the information concerning the nutritional contents of “special low protein products” recommended for PKU and available in Turkey were obtained from the websites of producers/suppliers. Results: A total of 148 SLPFs were identified in Turkey. Compared to regular products, SLPFs were determined to contain less sugar and high carbohydrate content in the Turkish market (p < 0.001). Overall, SLPF products had higher dietary fiber compared to products with regular protein content (p < 0.001). In SLPF subgroups, meat substitutes, rice and pasta, and soup products had significantly less total fat than regular products; low protein bread, sweet snacks, and salted crackers were found to contain less saturated fat (p < 0.05). Moreover, all SLPFs contained significantly more salt than regular products, especially the salt content of subgroups of low protein bread, flour, pasta, and rice was significantly higher than regular products (p < 0.05). Conclusion: Including detailed nutritional information on the Turkish SLPFs’ food labels will be effective for patients with PKU to follow themselves on their own.
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