Molecular Genetics and Metabolism Reports最新文献_第6页

Risk of inadequate protein and micronutrient intakes in patients with PKU with an increased phe-tolerance: Impact of a micronutrient-dense protein substitute 对ph耐受性增加的PKU患者蛋白质和微量营养素摄入不足的风险：微量营养素密集蛋白质替代品的影响

IF 1.9 4区医学

Molecular Genetics and Metabolism Reports Pub Date : 2025-12-01 Epub Date: 2025-10-04 DOI: 10.1016/j.ymgmr.2025.101264

Carmen Rohde , Denise Leonne Hofman , Ira Klawon , Frank Rutsch , Iris Rodenburg , Francjan van Spronsen , Alena Gerlinde Thiele , Willie Woestenenk , Skadi Beblo

{"title":"Risk of inadequate protein and micronutrient intakes in patients with PKU with an increased phe-tolerance: Impact of a micronutrient-dense protein substitute","authors":"Carmen Rohde , Denise Leonne Hofman , Ira Klawon , Frank Rutsch , Iris Rodenburg , Francjan van Spronsen , Alena Gerlinde Thiele , Willie Woestenenk , Skadi Beblo","doi":"10.1016/j.ymgmr.2025.101264","DOIUrl":"10.1016/j.ymgmr.2025.101264","url":null,"abstract":"<div><h3>Background</h3><div>Patients with phenylketonuria (PKU) with higher phenylalanine (phe)-tolerance may have inadequate diets due to high-quality protein restriction and reduced intakes of nutrient-fortified phe-free, tyrosine (tyr)-enriched protein substitutes (PS).</div></div><div><h3>Methods</h3><div>Open-label, 24-week, multi-centre intervention assessed the impact of a once-daily, micronutrient-dense PS on nutrient intakes in patients with an increased phe-tolerance. Subjects >12 years, consuming 0–25 g protein/day from a regular PS, were recruited. Diet records and fasting blood samples were collected at baseline and study end.</div></div><div><h3>Results</h3><div>11/13 subjects, 15-49y (5 males), with 6/11 taking tetrahydrobiopterin dihydrochloride (BH4) and/or a regular PS, completed the study. At baseline, protein and some essential amino acids (EAA) intakes were below recommendations in 4/11 and 3/11 subjects, respectively. Vitamins A, B2, B12, D, calcium, iron, iodine, zinc and magnesium intakes were below recommendations for 7/11. After the intervention, 2/11 had total protein intakes below recommendations, while 11/11 met EAA recommendations. Micronutrient intakes improved to ≥90 % of recommendations for all subjects except for vitamin B12 (4/11) and phosphorus (1/6). Docosahexaenoic acid (DHA) intakes increased. Blood phe levels remained stable.</div></div><div><h3>Conclusion</h3><div>Patients with PKU who have relaxed their phe-restricted diet are at risk of insufficient nutrient supply, and dietary counselling should be offered. Consuming the study PS increased nutrient intakes closer to dietary recommendations.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"45 ","pages":"Article 101264"},"PeriodicalIF":1.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145220001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Case report: Lysine improvement in siblings with glutaric acidemia type 1 following reduced medical food intake: Implications for amino acid absorption and reabsorption 病例报告：减少医疗食品摄入后1型戊二酸血症兄弟姐妹赖氨酸改善：对氨基酸吸收和再吸收的影响

IF 1.9 4区医学

Molecular Genetics and Metabolism Reports Pub Date : 2025-12-01 Epub Date: 2025-09-29 DOI: 10.1016/j.ymgmr.2025.101262

Grace Noh , Jariya Upadia

引用次数: 0

Serum hepcidin as a biomarker of treatment response in Gaucher disease 血清hepcidin作为戈谢病治疗反应的生物标志物

IF 1.9 4区医学

Molecular Genetics and Metabolism Reports Pub Date : 2025-12-01 Epub Date: 2025-09-24 DOI: 10.1016/j.ymgmr.2025.101255

Tiago Koppe , Franciele C. Pinheiro , Marina Siebert , Suelen Basgalupp , Liane E. Daudt , Ida Vanessa D. Schwartz

引用次数: 0

A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review 一种新的SLC17A5变异在婴儿唾液酸储存病伴低再生性贫血：神经影像学见解和文献综述

IF 1.9 4区医学

Molecular Genetics and Metabolism Reports Pub Date : 2025-12-01 Epub Date: 2025-12-08 DOI: 10.1016/j.ymgmr.2025.101284

Francesca Cappozzo , Mariasavina Severino , Elena Gennaro , Francesca Faravelli , Marina Martinez Popple , Maria Cristina Schiaffino , Annalisa Madeo , Alessandro La Rosa

{"title":"A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review","authors":"Francesca Cappozzo , Mariasavina Severino , Elena Gennaro , Francesca Faravelli , Marina Martinez Popple , Maria Cristina Schiaffino , Annalisa Madeo , Alessandro La Rosa","doi":"10.1016/j.ymgmr.2025.101284","DOIUrl":"10.1016/j.ymgmr.2025.101284","url":null,"abstract":"<div><div>Infantile sialic acid storage disorder (ISSD) represents the most severe form of free sialic acid storage disease (FSASD), a rare lysosomal storage disorder caused by mutations in <em>SLC17A5</em>, which encodes the lysosomal sialic acid transporter sialin. These mutations lead to the accumulation of free sialic acid within lysosomes, resulting in multisystemic involvement. Through a case report and literature review, we explored the phenotypic spectrum of FSASD, with a particular focus on neurological manifestations and characteristic neuroimaging findings of ISSD. Our patient exhibited severe hypotonia shortly after birth, dysmorphic features, and hyporegenerative anemia, a clinical presentation that has not previously described in ISSD. Brain MRI revealed hypomyelination, periventricular white matter T1-hyperintensity and T2-hypointensity, callosal thinning, and optic atrophy, providing critical diagnostic clues. MR spectroscopy showed an elevated NAA-like peak, further supporting the suspicion of ISSD. Laboratory tests demonstrated increased chitotriosidase activity and elevated urinary excretion of free sialic acid. Next-generation sequencing identified compound heterozygosity for a known pathogenic variant and a previously unreported <em>SLC17A5</em> variant (c.709G>A), affecting a highly conserved transmembrane domain residue and predicted to be pathogenic.</div><div>Our findings underscore the role of neuroimaging in the early diagnosis of ISSD and suggest a potential link between sialic acid metabolism and erythropoiesis, suggesting further investigation. Despite the lack of targeted therapies, recognizing FSASD remains essential for patient management and genetic counselling, ensuring appropriate clinical care and family support.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"45 ","pages":"Article 101284"},"PeriodicalIF":1.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145733129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening 戈谢病的早期诊断和管理：一个强调新生儿筛查关键作用的病例系列

IF 1.9 4区医学

Molecular Genetics and Metabolism Reports Pub Date : 2025-12-01 Epub Date: 2025-09-22 DOI: 10.1016/j.ymgmr.2025.101256

Éliane Beauregard-Lacroix , Madeline Steffensen , Caitlin Menello , Can Ficicioglu

{"title":"Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening","authors":"Éliane Beauregard-Lacroix , Madeline Steffensen , Caitlin Menello , Can Ficicioglu","doi":"10.1016/j.ymgmr.2025.101256","DOIUrl":"10.1016/j.ymgmr.2025.101256","url":null,"abstract":"<div><div>Type 1 Gaucher disease is a lysosomal storage disorder associated with marked phenotypic heterogeneity, including among individuals carrying genotypes historically defined as “mild”. Early diagnosis, workup and follow-up care are crucial to avoid irreversible complications. We present a case series of 5 pediatric patients with type 1 Gaucher disease who had been identified based on newborn screening (NBS), parental carrier status, or clinical presentation. They were followed over time for monitoring of clinical status, hematologic indices, biomarkers including glucopsychosine, and imaging studies. Enzyme replacement therapy (ERT) was started when rising trends of biomarkers and/or new clinical symptoms appeared. Three patients were identified by NBS, one at birth due to parental carrier status, and one after symptomatic presentation with femoral fracture. All patients required initiation of ERT between 9 months and 5 years of age due to evidence of disease progression. Early diagnosis via NBS and proactive monitoring enabled timely ERT initiation in four cases, preventing irreversible organ damage and clinical complications. In contrast, the unscreened case presented with severe skeletal and hematologic involvement at baseline. Rising glucopsychosine was a sensitive early marker of disease activity and MRI was more sensitive at detecting organomegaly than ultrasound. These cases emphasize the vital importance of NBS, regular biomarker surveillance, and early intervention, even in presumed mild cases based on genotype. Early diagnosis via NBS, individualized monitoring and timely treatment are fundamental to optimizing outcomes in Gaucher disease type 1.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"45 ","pages":"Article 101256"},"PeriodicalIF":1.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145109136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Application of high-resolution mass spectrometry profiling towards the diagnosis and acute management of maple syrup urine disease 高分辨率质谱分析在枫糖浆尿病诊断和急性治疗中的应用

IF 1.9 4区医学

Molecular Genetics and Metabolism Reports Pub Date : 2025-12-01 Epub Date: 2025-09-12 DOI: 10.1016/j.ymgmr.2025.101250

Rafael Garrett , Sara Pickett , Melinda J. Peters , Khadija Belhassan , Adam S. Ptolemy , Roy W.A. Peake

{"title":"Application of high-resolution mass spectrometry profiling towards the diagnosis and acute management of maple syrup urine disease","authors":"Rafael Garrett , Sara Pickett , Melinda J. Peters , Khadija Belhassan , Adam S. Ptolemy , Roy W.A. Peake","doi":"10.1016/j.ymgmr.2025.101250","DOIUrl":"10.1016/j.ymgmr.2025.101250","url":null,"abstract":"<div><div>The current approach for investigating patients with suspected inborn errors of metabolism (IEMs) involves traditional targeted biochemical assays such as amino/organic acid analyses. Although highly effective for confirmatory testing, they are less effective in identifying disorders not included in newborn screening (NBS) panels, and for patients with non-classical clinical presentations. Targeted assays analyze a narrow range of metabolites and are conducted across different analytical platforms, often requiring more than one specimen type. In contrast, comprehensive metabolic profiling using liquid chromatography-high-resolution mass spectrometry (LC-HRMS) provides significantly more information from a single specimen, eliminating the need for multiple and time-consuming analyses across different platforms. We describe the use of LC-HRMS metabolic profiling in two patients with decompensated maple syrup urine disease (MSUD). In the first patient, a previously healthy 3-month-old infant presenting with altered mental status, apnea, and seizures, LC-HRMS analysis of plasma before treatment showed increased levels of branched-chain amino acids and their related 2-keto and hydroxy acids. The diagnosis of MSUD was confirmed by targeted amino acid analysis. Additionally, the treatment course, which included dialysis and nutritional management, was monitored using LC-HRMS. This approach was successfully applied to a second patient, a 1-week-old infant with classical MSUD identified through NBS. In conclusion, comprehensive metabolic profiling by LC-HRMS is a valuable investigative tool for patients with both classic and non-specific neurometabolic clinical phenotypes, providing additional insights into metabolite perturbations during acute management.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"45 ","pages":"Article 101250"},"PeriodicalIF":1.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145045620","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Think classical homocystinuria if the genetic test did not confirm Marfan syndrome: Late diagnosis and phenotypic variability in adult siblings with classical homocystinuria 如果基因测试没有证实马凡氏综合征，考虑经典同型半胱氨酸尿：经典同型半胱氨酸尿的成年兄弟姐妹的晚期诊断和表型变异性

IF 1.9 4区医学

Molecular Genetics and Metabolism Reports Pub Date : 2025-12-01 Epub Date: 2025-10-10 DOI: 10.1016/j.ymgmr.2025.101261

Randa Sultan , Jordan Urlacher , Taryn Athey , Peter Kannu , Peter Seres , Saadet Mercimek-Andrews

{"title":"Think classical homocystinuria if the genetic test did not confirm Marfan syndrome: Late diagnosis and phenotypic variability in adult siblings with classical homocystinuria","authors":"Randa Sultan , Jordan Urlacher , Taryn Athey , Peter Kannu , Peter Seres , Saadet Mercimek-Andrews","doi":"10.1016/j.ymgmr.2025.101261","DOIUrl":"10.1016/j.ymgmr.2025.101261","url":null,"abstract":"<div><div>Classical homocystinuria is an inherited metabolic disease of homocysteine metabolism due to biallelic pathogenic variants in <em>CBS</em>. The biochemical hallmark is elevated homocysteine and methionine levels. The treatment consists of betaine supplementation and protein restricted diet. We report two adult siblings with late diagnosis of classical homocystinuria, a variable phenotype and good response to the treatment.</div><div>Patient 1 is a 29-year-old female with a history of myopia, Marfanoid habitus with significant kyphoscoliosis, anxiety and a psychotic episode. Clinical exome sequencing identified compound heterozygous pathogenic variants in <em>CBS</em> (c.209+1G>A; c.992C>T (p.Ala331Val)). She had markedly elevated homocysteine (298 μmol/L) and methionine (1040 μmol/L) levels. Her brain magnetic resonance spectroscopy revealed a low <em>n</em>-acetyl-aspartic acid peak. She was started on betaine supplementation, and a protein-restricted diet (0.8 g/kg/day) leading to significant decrease in her homocysteine (37 μmol/L) and methionine (49 μmol/L) levels. Patient 2 is a 27-year-old female (younger sibling) with a history of anxiety, one generalized tonic-clonic seizure and a dural sinus thrombosis in neuroimaging. She had both familial <em>CBS</em> variants and markedly elevated homocysteine (152 μmol/L) and methionine (560 μmol/L) levels, which were improved significantly on betaine supplementation and the protein-restricted diet. Both siblings had average range intellectual abilities. Higher homocysteine levels may result in severe skeletal, and central nervous system phenotypes.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"45 ","pages":"Article 101261"},"PeriodicalIF":1.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145266535","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Severe nonketotic hyperglycinaemia due to a synonymous variant 由同义变异引起的严重非酮症型高血糖血症

IF 1.9 4区医学

Molecular Genetics and Metabolism Reports Pub Date : 2025-12-01 Epub Date: 2025-10-16 DOI: 10.1016/j.ymgmr.2025.101268

Ping Pang , Lin Wan , Yan Liang , Xia Zhao , Guang Yang

{"title":"Severe nonketotic hyperglycinaemia due to a synonymous variant","authors":"Ping Pang , Lin Wan , Yan Liang , Xia Zhao , Guang Yang","doi":"10.1016/j.ymgmr.2025.101268","DOIUrl":"10.1016/j.ymgmr.2025.101268","url":null,"abstract":"<div><div>Nonketotic hyperglycinaemia (NKH) is an autosomal recessive neurometabolic disorder resulting from deficient glycine cleavage system activity, causing severe neurological impairment. While NKH is typically associated with pathogenic variants in glycine decarboxylase (<em>GLDC</em>) or aminomethyltransferase, the role of synonymous variants remains uncertain. To date, no cases of NKH caused by <em>GLDC</em> homozygous synonymous variants have been reported. Herein, a female infant born to consanguineous parents who developed refractory seizures, progressing to infantile epileptic spasms syndrome at 2 months is reported. Initial genetic testing identified a homozygous synonymous <em>GLDC</em> variant (c.1023G > A, p.Val341=), previously classified as “likely benign” in ClinVar (variation identification number: 1108119). Minigene splicing analysis revealed that the c.1023G > A variant caused a 38-base pair deletion in exon 7 (r.1021_1058del), Given the phenotypic characteristics of the child, we predict that this may resulting in a frameshift mutation (p.Val341ArgfsTer56) and a truncated protein. This functional evidence confirmed the pathogenicity of the variant.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"45 ","pages":"Article 101268"},"PeriodicalIF":1.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145325209","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical and molecular characteristics of Chinese patients with alkaptonuria: 4-year follow-up of a pediatric patient and literature review 中国尿酸钠患者的临床和分子特征：1例儿科患者4年随访及文献复习

IF 1.9 4区医学

Molecular Genetics and Metabolism Reports Pub Date : 2025-12-01 Epub Date: 2025-11-11 DOI: 10.1016/j.ymgmr.2025.101276

Xiaomei Qiu , Yuqing Liu, Yongxian Shao, Xiaojian Mao, Jingqi Zhang, Xiaodan Chen, Xi Yin, Huiying Sheng, Xiuzhen Li, Yunting Lin

{"title":"Clinical and molecular characteristics of Chinese patients with alkaptonuria: 4-year follow-up of a pediatric patient and literature review","authors":"Xiaomei Qiu , Yuqing Liu, Yongxian Shao, Xiaojian Mao, Jingqi Zhang, Xiaodan Chen, Xi Yin, Huiying Sheng, Xiuzhen Li, Yunting Lin","doi":"10.1016/j.ymgmr.2025.101276","DOIUrl":"10.1016/j.ymgmr.2025.101276","url":null,"abstract":"<div><div>Alkaptonuria (AKU) is a rare autosomal recessive disorder of amino acid metabolism caused by defects in the <em>HGD</em> gene. The diagnosis of AKU is often delayed or missed due to its insidiousness. AKU is far from well-known in China. This study aims to provide an epidemiological synthesis of Chinese AKU patients. Firstly, we reported a Chinese pediatric AKU patient who visited because of short stature. Her urinary organic acid analysis revealed a small amount of homogentisic acid (HGA). Whole exome sequencing and Sanger sequencing revealed that the patient carried a c.343-1G > A/c.1027 A > C(p.Met343Leu) compound heterozygous variant in the <em>HGD</em> gene, which was inherited from her parents, respectively. During 4-year follow-up, a small amount of HGA was persistently present in her urine, whereas her height exhibited catch-up growth and subsequently normalized. According to the literature, 91 Chinese AKU patients, including the present one, were included. Among them, the male-to-female ratio was approximately 2:1, and the average age at diagnosis was 36.99 ± 23.05 years. The most common clinical feature was darkened urine (100.00 %), followed by arthropathy (69.23 %) and pigmentation of the skin or sclera (58.24 %). Pigmentation of the skin or sclera and arthropathy occurred more frequently in adult patients. Eleven different variants in the <em>HGD</em> gene were identified, including 5 known variants and 6 not listed in HGMD. This study describes a new Chinese AKU patient and summarizes the clinical and molecular features of Chinese AKU patients, which will help enrich the knowledge of AKU and contribute to early recognition, diagnosis and treatment.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"45 ","pages":"Article 101276"},"PeriodicalIF":1.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145516860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Psychosocial adaptation of children and adolescents with phenylketonuria in Korea 韩国苯丙酮尿症儿童和青少年的社会心理适应

IF 1.9 4区医学

Molecular Genetics and Metabolism Reports Pub Date : 2025-12-01 Epub Date: 2025-10-19 DOI: 10.1016/j.ymgmr.2025.101272

Jeongho Lee, Eun Sook Suh

{"title":"Psychosocial adaptation of children and adolescents with phenylketonuria in Korea","authors":"Jeongho Lee, Eun Sook Suh","doi":"10.1016/j.ymgmr.2025.101272","DOIUrl":"10.1016/j.ymgmr.2025.101272","url":null,"abstract":"<div><div>Phenylketonuria (PKU) is one of the most common inherited metabolic disorders. If recognized and treated early, patients can avoid severe complications and maintain normal intellectual functioning. However, despite early and intensive treatment, several studies have reported an increased prevalence of psychiatric and behavioral symptoms, particularly in adulthood. The aim of this study was to investigate psychiatric manifestations in children and adolescents with PKU. The Korean version of the Child Behavior Checklist (K-CBCL) was used to assess psychopathology in 50 children with PKU and 50 healthy controls. Recent and mean phenylalanine (Phe) levels, as well as demographic information, were collected through retrospective chart review. Patients with PKU showed significantly higher scores in social, school, aggressive behavior, externalizing problems, and total behavior on the K-CBCL than healthy controls. Significant differences were found in total competence (<em>p</em> < 0.001), total behavior (<em>p</em> = 0.004), attention (<em>p</em> = 0.031), and emotional lability (p = 0.031) between clinical and non-clinical ranges. Later age at diagnosis was associated with increased anxiety, depression, thought problems, attention deficits, and emotional lability. Internalizing problems (<em>p</em> = 0.025), thought problems (<em>p</em> = 0.016), and delinquent behavior (<em>p</em> = 0.006) were positively correlated with recent and mean Phe levels. Internalizing problems (<em>p</em> = 0.004), attention (<em>p</em> = 0.008), and social problems (<em>p</em> = 0.016) were associated with variation in blood Phe levels. Children with PKU may experience greater psychosocial challenges than healthy children. Careful monitoring and control of Phe levels may reduce the risk of psychiatric symptoms in this population.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"45 ","pages":"Article 101272"},"PeriodicalIF":1.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145325207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0