Egyptian Liver Journal最新文献

{"title":"Impact of treating chronic hepatitis C with direct acting antivirals on health-related quality of life: a real-life Egyptian experience","authors":"Mohamed Elbadry, Mahmoud Badawi, Naglaa Youssef, Martin Duracinsky, Shereen A. Saleh, Anna Funk, Hagar Elessawy, Eva Rumpler, Khadiga Sayed, Anca Vasiliu, Yoann Madec, Arnaud Fontanet, Mohamed El-Kassas","doi":"10.1186/s43066-024-00317-8","DOIUrl":"https://doi.org/10.1186/s43066-024-00317-8","url":null,"abstract":"Chronic hepatitis C virus (HCV) infection negatively impacts health-related quality of life (HRQL). We aimed to assess patient-reported outcomes (PROs) to evaluate the impact of treating chronic HCV with directly acting antivirals (DAAs) on HRQL. PROs were assessed prospectively using the PROQOL-HCV questionnaire before (week 0), at the end (week 12), and after DAA treatment at week 24. HRQL was measured in six different dimensions: physical health, emotional health, future uncertainty, intimate relationships, social health, and cognitive functions. A total of 500 HCV patients receiving DAAs were enrolled; of them, 399 were included in the analysis (median age 57 years, 59% females). HRQL increased significantly between baseline, end of treatment, and week 24 for all dimensions (P < 0.001), more often for physical health in females compared to males (OR = 1.69, 95% CI = 1.1–2.5), for future uncertainty among people with diabetes (1.75, 95% CI = 1.05–2.9), and for cognitive functions among obese patients (OR = 1.98; 95% CI = 1.1–3.3). Improvement in HRQL was less common for intimate relations among females (OR = 0.47; 95% CI = 0.3–0.7) and in patients with cirrhosis (OR = 0.35, 95% CI = 0.1–0.7). Improvement in HRQL was consistently higher in < 60 years compared to ≥ 60 years patients, with a significant difference in social health (P < 0.001) and future uncertainty (P < 0.049) HRQL domains. HRQL improved with DAA therapy, a relation consistent across all HRQL dimensions up to 12 weeks after the end of treatment.","PeriodicalId":11620,"journal":{"name":"Egyptian Liver Journal","volume":"52 1","pages":""},"PeriodicalIF":0.8,"publicationDate":"2024-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139980246","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A 28-year-old male patient with asymptomatic and multi-drug-resistant HBV infection: a case report","authors":"Syed Ayaz Kazmi, Abdul Rauf, Muhammad Zahid Latif, Beenish Shahid, Sundus Khawaja, Zeeshan Anjum","doi":"10.1186/s43066-024-00319-6","DOIUrl":"https://doi.org/10.1186/s43066-024-00319-6","url":null,"abstract":"Chronic hepatitis B virus (HBV) infection poses a significant global health challenge, impacting millions of individuals and elevating the risk of morbidity and mortality. Antiviral therapies are the primary treatment for chronic HBV infection, but treatment resistance can occur, leading to poor clinical outcomes and an increased risk of liver complications. This case report presents the clinical trajectory of a 28-year-old male diagnosed with asymptomatic HBV infection in 2016 under the auspices of the Hepatitis Control Program, Government of Azad Jammu and Kashmir, Pakistan. Over 6 years, persistent HBsAg, HBV, and HBeAg were observed, with absent acute markers and co-infections. Initial HBV DNA viral load was 1 × 104 copies/mL in 2016, escalating despite entecavir and pegylated interferons therapy, indicating multi-drug resistance. Tenofovir therapy initially reduced viral load but later exacerbated it, reaching 1.86 × 106 copies/mL in 2022. Liver function abnormalities and lipid profile irregularities persisted. Urine examination consistently showed abnormalities. Pending HBV DNA sequencing results may offer insights into treatment resistance. This case underscores the need for an adaptive approach in managing chronic HBV infections within public health programs. Continuous monitoring, integration of virological and biochemical data, and a tailored treatment strategy are essential for optimizing outcomes in similar cases, stressing the importance of refining therapeutic approaches against chronic HBV infection.","PeriodicalId":11620,"journal":{"name":"Egyptian Liver Journal","volume":"29 1","pages":""},"PeriodicalIF":0.8,"publicationDate":"2024-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139969487","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic role of serum brain-derived neurotrophic factor in HCV cirrhotic patients with minimal hepatic encephalopathy with and without schistosomiasis","authors":"Essam S. Bedewy, Abeer Elhadidi, Naglaa Abd El-Latif, Yousra T. El Zawawy, Amany N. Abbasy","doi":"10.1186/s43066-024-00315-w","DOIUrl":"https://doi.org/10.1186/s43066-024-00315-w","url":null,"abstract":"Liver cirrhosis (LC) advances from an asymptomatic phase (compensated cirrhosis) to a symptomatic phase (decompensated cirrhosis). Up to 80% of patients with LC may experience minimal hepatic encephalopathy (MHE), which is the first stage of hepatic encephalopathy (HE). Due to the lack of serum indicators, the diagnosis of MHE is frequently based on neuropsychometric tests. Therefore, this study aimed to evaluate the role of brain-derived neurotrophic factor (BDNF) as a diagnostic marker for MHE in HCV cirrhotic patients with or without hepatic schistosomiasis. The study consisted of 60 patients with divided into 3 groups (20 patients with HCV-related LC with overt HE, 20 patients with HCV-related LC without overt HE, and 20 patients with HCV-related LC and hepatic schistosomiases co-infection without overt HE) as well as 20 healthy controls. Patients without overt HE were evaluated for MHE by psychometric tests (trail making tests A and B). Serum BDNF was measured in all patients as well as healthy controls. Serum BDNF was found to be significantly lower in patients with LC regardless of etiology than in healthy controls; however, no statistically significant difference was found between patients with and without overt HE. Upon subdivision of patients without overt HE into “normal” and “deficient” using psychometric tests, serum BDNF was found to be significantly lower in patients with overt as well as those with “deficient” psychometric tests (have MHE). Serum BDNF had a sensitivity of 65.85% and specificity of 84.62%, and positive predictive value (PPV) was 82.0%, and negative predictive value (NPV) was 70.0% for diagnosis of MHE. Serum BDNF concentration was found to be significantly lower in patients with deficient psychometric tests having either overt or covert HE which suggests that serum BDNF can be used as a diagnostic marker for MHE.","PeriodicalId":11620,"journal":{"name":"Egyptian Liver Journal","volume":"24 1","pages":""},"PeriodicalIF":0.8,"publicationDate":"2024-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139921204","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tissue inhibitor of matrix metalloprotinase-1 and collagen type IV in HCV-associated cirrhosis and grading of esophageal varices","authors":"Nasser Mohamed Abdalla, Fatma Mohamed Abd El Aziz, Akram Deghady, Mohamed Helmy Abaza, Walid Ismail Ellakany","doi":"10.1186/s43066-024-00316-9","DOIUrl":"https://doi.org/10.1186/s43066-024-00316-9","url":null,"abstract":"Esophageal varices are abnormally dilated submucosal veins of the esophagus which develop as a result of portal hypertension due to cirrhosis. Collagen type IV is upregulated with a 14-fold increase in cirrhosis. Tissue inhibitor of metalloproteinases-1 (TIMP-1) is also upregulated during hepatic fibrogenesis and considered to promote fibrosis in the injured liver. The objective of this research was to study the serum levels of tissue inhibitor of matrix metalloprotinase-1 and serum collagen type IV in patients with post hepatitis C cirrhosis and their relation to the different grades of esophageal varices. This study was carried out on one hundred and twenty individuals classified into three groups: Group I included thirty patients with liver cirrhosis without esophageal varices. Group II included sixty patients with liver cirrhosis with esophageal varices. Group III included thirty healthy volunteers as controls. A significant positive correlation was found between collagen type IV and the presence of esophageal varices in esophageal varices group (p = 0001*). Also, a significant positive correlation was found between TIMP-1 and the presence of esophageal varices in esophageal varices group (p = 0.033*). After conducting multivariate logistic regression analysis, collagen type IV and INR were found to be independent risk factors for esophageal varices in patients with cirrhosis. The serum collagen type IV and TIMP-1 levels are useful markers for predicting of presence of esophageal varices.","PeriodicalId":11620,"journal":{"name":"Egyptian Liver Journal","volume":"127 1","pages":""},"PeriodicalIF":0.8,"publicationDate":"2024-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139921206","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Serum level of hepcidin in cirrhotic patients as a marker for hepatocellular carcinoma","authors":"Khaled Mahmoud Mohiedeen, Mona Moustafa Tahoon, Christina Samir Sadek Hanna, Mohamed Adel Abdel Aziz","doi":"10.1186/s43066-023-00307-2","DOIUrl":"https://doi.org/10.1186/s43066-023-00307-2","url":null,"abstract":"People all around the world are affected by primary liver cancers like hepatocellular carcinoma (HCC), which is usually associated with cirrhosis. Early HCC detection is crucial for better prognosis, but effective biomarkers are still needed. Hepcidin, a hormone-regulating iron homeostasis, has been implicated in liver diseases. In this study, blood hepcidin levels were evaluated in cirrhotic individuals as a possible biomarker for HCC. There were three groups involved in this case-control study: cirrhotic patients with no HCC (group I), cirrhotic patients diagnosed with HCC (group II), and healthy controls (group III). Clinical and laboratory data, such as those from tests indicating the liver function, hepcidin levels, and imaging, were all analyzed using a number of statistical tests. When compared to those with cirrhosis, serum hepcidin levels were significantly lower in HCC patients, but there was no significant difference statistically between the two studies involved: cirrhotic groups and the controls. Serum alpha-fetoprotein (AFP) was also significantly greater in HCC patients. The start and progression of liver diseases, such as HCC in cirrhotic people, appear to be influenced by hepcidin. It can be utilized as a potential HCC biomarker when cirrhotic liver is present, despite the fact that it cannot be used to diagnose cirrhosis by itself.","PeriodicalId":11620,"journal":{"name":"Egyptian Liver Journal","volume":"4 1","pages":""},"PeriodicalIF":0.8,"publicationDate":"2024-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139751043","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Splenic artery aneurysm rupture in a pregnant woman with hepatosplenic schistosomiasis: case report and literature review","authors":"Chantelli Iamblaudiot Razafindrazoto, Antsa Fihobiana Randrianiaina, Behoavy Mahafaly Ralaizanaka, Henintsoa Rakotoniaina, Nitah Harivony Randriamifidy, Anjaramalala Sitraka Rasolonjatovo, Andry Lalaina Rinà Rakotozafindrabe, Tovo Harimanana Rabenjanahary, Soloniaina Hélio Razafimahefa, Rado Manitrala Ramanampamonjy","doi":"10.1186/s43066-024-00314-x","DOIUrl":"https://doi.org/10.1186/s43066-024-00314-x","url":null,"abstract":"Pregnancy is not uncommon in patients with non-cirrhotic portal hypertension. Rupture of a splenic artery aneurysm remains a rare complication, associated with a very poor maternal–fetal prognosis. Our aim is to report a case of ruptured splenic aneurysm and to show the maternal–fetal over-risks during the association of pregnancy and portal hypertension, even in non-cirrhotic patients. We report a case of a 34-year-old woman, pregnant at 24 weeks gestation, with non-cirrhotic portal hypertension due to hepatic schistosomiasis. She was hospitalized for variceal bleeding. Patient had undergone endoscopic variceal band ligation and no bleeding recurrence. An unexplained hypovolemic shock appeared during the hospitalization with the occurrence of an in utero fetal death. The fetus was delivered by vaginal delivery. Abdominal CT scan angiogram showed a splenic artery aneurysm rupture. The patient underwent an emergency laparotomy with ligation of the splenic artery associated with splenectomy. Postoperative course was simple. Management of portal hypertension was continued at discharge (diuretic, beta-blockers, and esophageal varices ligation). The association of pregnancy and portal hypertension remains a serious situation with a high risk of maternal–fetal complications. Splenic artery aneurysm rupture is one of the rare complications of this association with a very poor maternal–fetal prognosis. Open repair is the surgical treatment of choice with a non-negligible morbi-mortality.","PeriodicalId":11620,"journal":{"name":"Egyptian Liver Journal","volume":"221 1","pages":""},"PeriodicalIF":0.8,"publicationDate":"2024-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139586603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Can the FIB-4 score predict the severity of acute pancreatitis in NAFLD?","authors":"Kutay Kirdok, Özge Yogurtcu, Tahir Buran, Elmas Kasap","doi":"10.1186/s43066-024-00313-y","DOIUrl":"https://doi.org/10.1186/s43066-024-00313-y","url":null,"abstract":"Non-alcoholic fatty liver disease (NAFLD) is a liver pathology. NAFLD’s prevalence is increasing in the world and because of the increase non-invasive methods are gaining importance in diagnosis. The Fibrosis 4 (FIB-4) score is one of the most commonly used non-invasive scoring methods for diagnosing NAFLD today. Acute pancreatitis is a disease with inflammation and high morbidity. There are studies indicating that acute pancreatitis progresses more severely in patients with NAFLD. In our study, it was aimed to define the possible relationship between the FIB-4 score and the severity of acute pancreatitis, which has not been investigated before and contribute to the literature. Our study was conducted by retrospectively scanning 124 patients diagnosed with acute pancreatitis between 2018 and 2020. The patients were compared with the presence of NAFLD and the FIB-4 score results in those with NAFLD. The 48th-hour Ranson score was found to be statistically significantly higher in patients with NAFLD compared to those without NAFLD. In patients with NAFLD, the total billurbin, direct billurbin, AST, ALT, ALP, GGT, and Ranson scores were found to be statistically significantly higher in those with FIB-4 score ≥ 2.67. As liver fibrosis increases in patients with NAFLD, it is suggested that liver damage accompanying acute pancreatitis increases, and the prognosis of acute pancreatitis worsens. There is a need for further studies to be conducted while centering more on this subject, which has not been investigated before in the literature.","PeriodicalId":11620,"journal":{"name":"Egyptian Liver Journal","volume":"171 1","pages":""},"PeriodicalIF":0.8,"publicationDate":"2024-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139590277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Safety, risk stratification, and cost of ERCP in patients with cirrhosis: a prospective controlled study","authors":"Ahmed Attia","doi":"10.1186/s43066-024-00311-0","DOIUrl":"https://doi.org/10.1186/s43066-024-00311-0","url":null,"abstract":"Given that ERCP has major procedure-related complications in non-cirrhotic patients, the complications and the cost of therapeutic ERCP were not studied in cirrhotic patients. We aimed to study the complications and cost of ERCP compared to patients without cirrhosis. Outcome and complications of therapeutic ERCP were prospectively studied in patients with cirrhosis and compared to patients without cirrhosis undergoing ERCP. Patients with cirrhosis were evaluated using the Child-Pugh classification, MELD, MELD Na, and APRI scores. Safety was assessed up to 30 days following the procedure. Pancreatitis, perforation, bleeding, and cardiopulmonary complications were not different in both groups (8% vs. 9.3, 0% vs. 2%, 3.3% vs. 4%, and 4% vs. 2% respectively), while cholangitis occurred more frequently in cirrhosis (13.3% vs. 1.3% respectively). Hospital stay was longer, and mortality and costs were significantly higher among patients with cirrhosis. Patients with Child C cirrhosis developed more complications and had higher mortality. A MELD score cut-off of ≥ 11.5 separated all mortalities. Similarly, MELD-Na and APRI separated patients with cirrhosis who had more frequent complications and mortalities. Patients with cirrhosis experienced more complications and costs, and cirrhotic patients who developed moderate to severe complications were more likely to die.","PeriodicalId":11620,"journal":{"name":"Egyptian Liver Journal","volume":"51 1","pages":""},"PeriodicalIF":0.8,"publicationDate":"2024-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139510303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic and prognostic significance of tissue lncRNA HOTAIR and hexokinase 2 mRNA expression in patients with pancreatic ductal adenocarcinoma","authors":"Ghada Salah, Manar Obada, Dina Sweed, Ibrahim Abdelkader Salama, Ashraf Khalil, Shimaa Abdelsattar","doi":"10.1186/s43066-023-00308-1","DOIUrl":"https://doi.org/10.1186/s43066-023-00308-1","url":null,"abstract":"Pancreatic adenocarcinoma, recognized for its aggressive behavior and frequent late-stage diagnosis, imposes significant challenges in early detection and prognosis. This study aimed to evaluate the diagnostic and prognostic potential by measuring the expression levels of long non-coding RNA HOTAIR and the glycolytic enzyme hexokinase 2 (HK2) mRNA in both tumorous and adjacent non-tumorous pancreatic tissue samples (n = 25 each) using RT-qPCR. Results Both lncRNA HOTAIR and HK2 expression levels significantly increased in tumorous pancreatic tissues compared to non-tumorous tissue (P = 0.001). However, their levels in stage T2 and T3 showed no statistically significant difference (P = 0.01). lncRNA HOTAIR and HK2 expression levels positively correlated with each other (P = 0.001; r = 0.95); however, no significant associations were found with serum tumor markers CA19-9 and CEA (P = 0.01; r = 005; p = 0.1, r = 0.2). ROC analysis demonstrated the significant abilities of both lncRNA HOTAIR and HK2 expression levels to discriminate between tumorous and non-tumorous pancreatic tissues (AUC = 0.92 and 0.84, respectively) with 96% and 88% sensitivity, and 72% and 40% specificity, respectively, at optimal cut-off values of 1.12 and 0.84 relative expression units. Patients with elevated lncRNA HOTAIR and HK2 expression had shorter median survival (8 and 7 months, respectively), increasing the risk of adverse outcomes or recurrence 4–4.8 times (HR = 4.08, p = 0.07; HR = 4.8, p = 0.01), thus emphasizing their prognostic potential in pancreatic cancer. lncRNA HOTAIR and HK2 expression levels exhibit diagnostic potential in pancreatic tumors. Elevated levels of both markers correlate strongly with adverse outcomes, underscoring their prognostic value.","PeriodicalId":11620,"journal":{"name":"Egyptian Liver Journal","volume":"7 1","pages":""},"PeriodicalIF":0.8,"publicationDate":"2024-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139496634","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The value of simultaneous determination of blood large neutral amino acids and tetrahydrobiopterin metabolites in the diagnosis of atypical hyperphenylalaninemia","authors":"Nadia Salama, Gamalte Elgedawy, Radwa Gamal, Osama Zaki, Ashraf Khalil, Manar Obada","doi":"10.1186/s43066-024-00312-z","DOIUrl":"https://doi.org/10.1186/s43066-024-00312-z","url":null,"abstract":"Tetrahydrobiopterin deficiency in newborns with atypical hyperphenylalaninemia requires rapid and accurate diagnosis and the ability to distinguish it from the classical type to prevent early irreversible neurological damage. The study aimed to evaluate neopterin and biopterin (products of tetrahydrobiopterin recycling pathway) and amino acid profiles (used in supplementation therapy) in patients with hyperphenylalaninemia after optimizing ultra-performance liquid chromatography coupled with tandem mass spectrometry to simultaneously measure neopterin, biopterin, and amino acids in dried blood spots. The study enrolled preselected infants with classic (n = 46), atypical (n = 14) hyperphenylalaninemia, and a control group (n = 50). Result Tandem mass spectrometry detected neo/biopterin in the blood with a sensitivity and specificity of 100%. The mean neo/biopterin levels were significantly lower in the atypical cases (4 ± 1 and 3 ± 1 nmol/L) than the classic (49 ± 13 and 50 ± 12 nmol/L) and control (15.2 and 15.3 nmol/L) groups and correlated with phenylalanine and phenylalanine to tyrosine ratio (all P < 0.05). The study compared classic and atypical hyperphenylalaninemia cases with the control group. Both classic and atypical cases exhibited decreased levels of arginine, valine, and leucine compared to controls. Classic cases showed increased levels of citrulline, ornithine, and methionine, while atypical cases showed increased citrulline levels only. Comparing atypical versus classic cases, atypical cases exhibited decreased levels of citrulline, ornithine, methionine, arginine, leucine, and valine (all P < 0.05). Correlation analysis revealed negative associations between ornithine and biopterin and between arginine and neopterin in classic PKU cases. These findings highlight distinct metabolic differences between classic and atypical PKU. Conclusion The optimized method detected neo/biopterin in the blood with accuracy and precision. The characteristic pattern of neo/biopterin in the blood makes it possible to differentiate between classic and atypical hyperphenylalaninemia with a sensitivity and specificity of 100%. The amino acid profile could add value when treatment with large neutral amino acids is considered.","PeriodicalId":11620,"journal":{"name":"Egyptian Liver Journal","volume":"22 1","pages":""},"PeriodicalIF":0.8,"publicationDate":"2024-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139484165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}