Molecular Genetics and Metabolism Reports最新文献

{"title":"Evaluation of bone mineral density and biochemical markers in pediatric patients with phenylketonuria.","authors":"Akram Ehsasat Vatan, Amin Mottaghizade Gargari, Arian Haghtalab, Nima Ebrahimpour Seraydar","doi":"10.1016/j.ymgmr.2024.101173","DOIUrl":"10.1016/j.ymgmr.2024.101173","url":null,"abstract":"<p><strong>Objectives: </strong>Phenylketonuria is a hereditary condition caused by the deficiency of the enzyme phenylalanine hydroxylase, leading to abnormal phenylalanine metabolism. Managing phenylketonuria involves implementing dietary interventions to control phenylalanine levels and prevent complications. However, these treatments can lead to long-lasting negative effects, including impacts on bone health and abnormal biochemical test findings. The aim of the study was to examine the relationship between biological markers and bone density in individuals with phenylketonuria.</p><p><strong>Methods: </strong>This cross-sectional study was conducted out at Motahari Hospital in Urmia, Iran. The study involved 19 patients with phenylketonuria, examining their demographic information, laboratory findings, and bone density by statistical methods.</p><p><strong>Results: </strong>The study examined the association between age and bone densitometry outcomes, along with the connection between different biochemical markers and bone densitometry results. The analysis showed no statistically significant link between age and bone densitometry data (<i>P</i>-value = 0.31). The <i>p</i>-values for correlation between bone densitometry and serum calcium, serum phosphorus, phenylalanine, alkaline phosphatase, and 25-hydroxyvitamin D₃ were found to be 0.30, 0.27, 0.57, 0.86, and 0.95, respectively. The only significant relationship was between the result of bone densitometry and alkaline phosphatase levels in the age group below 8 years with a correlation of 0.720 (<i>P</i>-value = 0.01).</p><p><strong>Conclusions: </strong>The study revealed no association between bone densitometry and levels of serum calcium, serum phosphorus, phenylalanine, and 25-hydroxyvitamin D₃. The only meaningful association was between bone densitometry and alkaline phosphatase in the age group below 8 years.</p>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"41 ","pages":"101173"},"PeriodicalIF":1.8,"publicationDate":"2024-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11667057/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142885341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case study of lethal neonatal CPT II deficiency: Novel insights from genetic analysis.","authors":"Thi Chi Mai Tran, Van-Thao Ta, Thi Bao Bui, Chi Dung Vu, Thuy Ngoc Pham","doi":"10.1016/j.ymgmr.2024.101170","DOIUrl":"10.1016/j.ymgmr.2024.101170","url":null,"abstract":"<p><strong>Introduction: </strong>Carnitine Palmitoyltransferase II (CPT II) deficiency encompasses a spectrum of disorders, with the lethal neonatal form (LNF) representing the rarest and most severe. While there are numerous <i>CPT2</i> gene variants that can cause CPT II deficiency, only 16 variants of these are known to be associated with LNF. This report presents the case of a neonatal male diagnosed with lethal CPT II deficiency, characterized by the presence of two heterogeneous variants. Additionally, we provide a comprehensive review of all clinical symptoms, biochemistry, and reported pathogenic variants associated with LNF CPT II deficiency.</p><p><strong>Case presentation: </strong>A neonatal male exhibited typical symptoms and biochemical features of CPT II deficiency, along with abnormal long-chain fatty acid profiles, notably an exceptionally high level of C18OH. Genetic analysis of the dried blood spot (DBS) sample revealed two heterozygous variants: <i>CPT2</i> p.E174K and p.R554X. Both the healthy father and mother carried heterozygous variants, p.R554X and p.E174K, respectively.</p><p><strong>Discussion: </strong>The symptoms of the LNF CPT II deficiency are characterized by the unavailability of fatty acids for energy production and the accumulation of lipids in tissues, primarily due to the extremely low activity of CPT II. The genetic variants associated with these cases are notably limited, and all of them are classified as 'severe' variants. In the presented case, the co-occurrence of p.R554X with another severe variant, p.E174K, manifests as LNF, this compelling evidence strongly supports the assertion that p.R554X is a potentially severe pathogenic variant contributing to CPT II deficiency.</p><p><strong>Conclusion: </strong>This report represents the initial documentation of a LNF CPT II deficiency case characterized by the presence of two heterozyous <i>CPT2</i> variants: p.E174K and p.R554X. As a result, the p.R554X variant is potentially classified as a severe pathogenic variant. It further emphasizes the significance of early detection and precise mutation classification for effective disease.</p>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"41 ","pages":"101170"},"PeriodicalIF":1.8,"publicationDate":"2024-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11667183/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142886137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Biallelic variants in the <i>NDUFAF6</i> cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands.","authors":"Yuwei Zhou, Xiaofei Zeng, Luyi Zhang, Xiaojie Yin, Xue Ma, Keyi Li, Peijing Qiu, Xiaoting Lou, Liqin Jin, Ya Wang, Yanling Yang, Ting Shen","doi":"10.1016/j.ymgmr.2024.101168","DOIUrl":"10.1016/j.ymgmr.2024.101168","url":null,"abstract":"<p><strong>Background: </strong>Variants in <i>NDUFAF6</i> have been reported to be associated with Leigh syndrome. However, further expansion of the <i>NDUFAF6</i>-phenotype and variants spectrum of <i>NDUFAF6</i>-related Leigh syndrome are still required.</p><p><strong>Methods: </strong>Two patients diagnosed with Leigh syndrome were recruited, and whole-exome sequencing was performed to identify the genetic variants responsible for the abnormal gait, dystonia, and bilateral basal ganglia lesions, followed by validation using Sanger sequencing. Detailed medical records of the patients were collected and reviewed. Patient-derived immortalized B lymphocytes were generalized for functional assays. The clinical manifestations of the patients in this study and previously reported studies are summarized.</p><p><strong>Results: </strong>Two patients developed gait dystonia followed by rapid progression to generalized dystonia and psychomotor regression. Brain magnetic resonance images showed lesions in bilateral symmetric basal ganglia. We identified that patient 1 and patient 2 had two missense changes (NM_152416 c.371 T > C, c.923 T > C and c.371 T > C, c.920 A > T) in <i>NDUFAF6</i>, respectively. The deficiency of mature super complex of complex I was confirmed in patient-derived immortalized B lymphocytes. Meanwhile, cellular ATP production was decreased, and mitochondrial ROS was increased. A literature review of 18 patients carrying variants in <i>NDUFAF6</i> was conducted, focusing on neurological presentation.</p><p><strong>Conclusions: </strong><i>NDUFAF6</i>-related Leigh syndrome is a relevant cause of initial symptoms with abnormal gait, dystonia, and bilateral basal ganglia lesions. Two novel genetic variants, c.923 T > C and c.920 A > T were reported, which expands <i>NDUFAF6</i>-related Leigh syndrome and is advantageous for genetic counseling.</p>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"41 ","pages":"101168"},"PeriodicalIF":1.8,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11667041/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142884844","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Baseline urinary ALA and PBG as criteria for starting pharmacologic prophylactic treatment in acute intermittent porphyria treated with givosiran.","authors":"Hung-Chou Kuo, Long-Sun Ro, Chia-Ni Lin, Chun-Che Chu, Ming-Feng Liao, Hong-Shiu Chang","doi":"10.1016/j.ymgmr.2024.101169","DOIUrl":"10.1016/j.ymgmr.2024.101169","url":null,"abstract":"<p><strong>Introduction: </strong>For patients with acute intermittent porphyria (AIP), a true attack could be difficult to distinguish from chronic abdominal pain. This study focused on treatment responses from two patients with confirmed elevated biochemical data (delta-aminolevulinic acid (ALA), porphobilinogen (PBG)) and clinical evidence for acute attacks before starting givosiran.</p><p><strong>Methods: </strong>Data from patients who participated in the phase III givosiran trial in Taiwan between May 2018 and May 2021 were reviewed. The pre-trial and post-trial biochemical data (urinary ALA/PBG), annualized attack rate (AAR), for two participants were obtained from our hospital record.</p><p><strong>Results: </strong>Two patients had detailed records of biochemical evidence of acute attacks pre-trial (ALA:11.66-79.8 mg/24-h urine collection, PBG:75.45-160.11 mg/24-h). Patient Pb/Gn#1 with a disease duration of 1.6-years, had zero AAR during givosiran treatment. Patient Pb/Gn#2 had received prior hemin prophylaxis, had AIP for 6.7-years, had an AAR of 17.0 before givosiran, and an AAR of 12 at the post-trial compassionate-use period. The change in SF-12 PCS score from baseline was marginally clinical-meaningful (2.8 for Patient Pb/Gn#1 and 2.0 for Patient Pb/Gn#2).</p><p><strong>Conclusion: </strong>Our data from 2 AIP patients with biochemical and clinical evidence of acute attacks suggested that patient with a shorter disease duration may respond better in terms of AAR. Further studies are necessary to understand the association between disease characteristics, treatment history, and optimal treatment response for patients with recurrent AIP in terms of both attack frequency and quality of life.</p>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"41 ","pages":"101169"},"PeriodicalIF":1.8,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11667067/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142886151","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient-reported visual function outcomes agree with visual acuity and ophthalmologist-graded scoring of visual function among patients with long-chain 3-hydroxyacylcoA dehydrogenase deficiency (LCHADD)","authors":"Ashley N. Gregor ,&nbsp;Danielle Black ,&nbsp;Nida Wongchaisuwat ,&nbsp;Mark E. Pennesi ,&nbsp;Melanie B. Gillingham","doi":"10.1016/j.ymgmr.2024.101171","DOIUrl":"10.1016/j.ymgmr.2024.101171","url":null,"abstract":"<div><div>Patients with LCHADD develop progressive chorioretinopathy with vision loss over time. To date, no data on the impact of vision loss on patient vision-specific activities of daily living or quality of life have been reported. We used validated ophthalmic patient-reported outcome measures (PROMs) to compare the impact of patient-perceived visual function to visual acuity and an ophthalmologist-graded stage of LCHADD chorioretinopathy. There was a strong correlation between the patient-reported visual function scores, visual acuity and the ophthalmologist's assigned stage. Adult patients reported lower driving and mental health scores compared to other visual subscales in the VFQ-25. Both children and their parents report a similar impact of their child's eye condition to their quality of life and worry about their vision. These validated PROMs captured functional vision in a group of 40 patients with LCHADD/TFPD that closely correlated with visual acuity and ophthalmologist-graded visual function.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"41 ","pages":"Article 101171"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142759045","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Oral health care knowledge among Phenylketonuria patients in the Latvian population","authors":"Iveta Abola ,&nbsp;Nikola Anna Intlere ,&nbsp;Anda Brinkmane ,&nbsp;Sabine Laktina ,&nbsp;Agnese Zarina ,&nbsp;Lauma Vasilevska ,&nbsp;Ingus Skadins ,&nbsp;Georgijs Moisejevs ,&nbsp;Linda Gailite ,&nbsp;Madara Auzenbaha","doi":"10.1016/j.ymgmr.2024.101167","DOIUrl":"10.1016/j.ymgmr.2024.101167","url":null,"abstract":"<div><h3>Background</h3><div>Phenylketonuria (PKU) is an autosomal recessive inherited disorder of phenylalanine (Phe) metabolism that results from a deficiency of phenylalanine hydroxylase (PAH). Patients with PKU rely on amino acid mixtures and low-protein diets, which often exhibit an acidic nature and pose various challenges to oral health. The objective of the study was to evaluate oral care habits of PKU patients in Latvia and the impact of the recommendations developed on improving oral care.</div></div><div><h3>Materials and methods</h3><div>In this study, during a one-month interval before and after the implementation of oral hygiene recommendations, questionnaires were distributed to all patients with PKU diagnosed in Latvia, with a response rate of 78 % (79 of 101).</div></div><div><h3>Results</h3><div>The group older and 18 years of age showed a poorer understanding of oral care even after receiving recommendations, 82 % brushing their teeth twice a day (92 % in the group &lt;18 years of age), continuing 57 % rinsing their mouth after using amino acid formula (75 % in the younger group). Significant improvements were observed only in the respondent group younger than 18 years of age - including increases in toothbrushing twice a day by 25 % (<em>p</em> = 0.001), dental flossing by 23 % (<em>p</em> = 0.001), mouth rinsing after amino acid-based formula by 13 % (<em>p</em> = 0.020).</div></div><div><h3>Conclusion</h3><div>This study concludes that PKU patients older and 18 years of age have a poor understanding of maintaining oral hygiene and the use of the necessary supplements to improve it. Activities are needed in the future that would regularly remind and motivate PKU patients to take care of their oral health.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"41 ","pages":"Article 101167"},"PeriodicalIF":1.8,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142723832","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy and safety of switching therapy from chenodeoxycholic acid to cholic acid in Japanese patients with bile acid synthesis disorders","authors":"Mitsuyoshi Suzuki ,&nbsp;Hajime Takei ,&nbsp;Hiromi Suzuki ,&nbsp;Jun Mori ,&nbsp;Satoru Sugimoto ,&nbsp;Tatsuki Mizuochi ,&nbsp;Akira Ohtake ,&nbsp;Hisamitsu Hayashi ,&nbsp;Akihiko Kimura ,&nbsp;Hiroshi Nittono","doi":"10.1016/j.ymgmr.2024.101166","DOIUrl":"10.1016/j.ymgmr.2024.101166","url":null,"abstract":"<div><h3>Objectives</h3><div>This study aimed to assess the safety and efficacy of cholic acid (CA) treatment over 74 weeks in Japanese patients with inherited enzymatic bile acid synthesis disorders (BASD).</div></div><div><h3>Methods</h3><div>This phase 3, open-label, single-arm study enrolled four Japanese patients diagnosed with BASD, including two with 3β-hydroxy-<em>Δ</em>⁵-C₂₇-steroid dehydrogenase/isomerase (HSD3B7) deficiency and two with <em>Δ</em>⁴–3-oxosteroid 5β-reductase (SRD5B1) deficiency. The patients had received chenodeoxycholic acid (CDCA) treatment but were switched to CA treatment. Treatment efficacy was evaluated by measuring serum and urinary bile acid levels and liver-related biomarkers, and adverse events were evaluated to monitor safety.</div></div><div><h3>Results</h3><div>The daily CA doses ranged from 3.8 to 13.7 mg/kg/day. Laboratory values of liver-related biomarkers were maintained within normal ranges or improved. Bile acid analysis revealed CDCA replacement with CA in serum within the initial few weeks of CA treatment. Urinary concentrations of toxic bile acid metabolites associated with liver damage were higher than serum. Adverse effects from CA treatment were mild to moderate, and no treatment discontinuations were due to adverse events.</div></div><div><h3>Conclusions</h3><div>CA treatment over 74 weeks resulted in favorable efficacy and safety outcomes in Japanese patients with BASD, consistent with previous studies. These results support the utility of CA as a therapeutic option for Japanese patients with BASD.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"41 ","pages":"Article 101166"},"PeriodicalIF":1.8,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142704531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Homozygous slc25a20 zebrafish mutant reveals insights into carnitine-acylcarnitine translocase deficiency pathogenesis","authors":"Ryuichi Hishida ,&nbsp;Kohei Ishiguro ,&nbsp;Tomoyuki Yamanaka ,&nbsp;Shinya Toyokuni ,&nbsp;Hideaki Matsui","doi":"10.1016/j.ymgmr.2024.101165","DOIUrl":"10.1016/j.ymgmr.2024.101165","url":null,"abstract":"<div><div>The <em>SLC25A20</em> gene encodes carnitine-acylcarnitine translocase (CACT), facilitating the transport of long-chain acylcarnitine required for energy production via β-oxidation into the mitochondria. Loss-of-function mutations in this gene lead to CACT deficiency, a rare autosomal recessive disorder of fatty acid metabolism characterized by severe symptoms including cardiomyopathy, hepatic dysfunction, rhabdomyolysis, hypoketotic hypoglycemia, and hyperammonemia, often resulting in neonatal mortality. Here, we utilized CRISPR/Cas9 gene editing to isolate <em>slc25a20</em> mutant zebrafish. Homozygous mutants displayed significant lethality, with the majority succumbing before reaching maturity. However, we identified a notably rare homozygous individual that survived into adulthood, prompting a histological examination. Firstly, we observed adipose tissue accumulation at various sites in the homozygous mutant. The mutant heart exhibited hypertrophy, along with degenerated myocardial and muscle cells containing numerous eosinophilic nuclei. Additionally, we found no large oil droplet vacuoles in the mutant liver; however, the hepatocytes displayed numerous small vacuoles resembling lipid droplets. Iron deposition was evident in the spleen and parts of the liver. Overall, our <em>slc25a20</em> zebrafish mutant displayed tissue pathologies analogous to human CACT deficiency, suggesting its potential as a pathological model contributing to the elucidation of pathogenesis and the improvement/development of therapies for CACT deficiency.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"41 ","pages":"Article 101165"},"PeriodicalIF":1.8,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142704532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cognition and wellbeing in middle-aged early treated people with phenylketonuria: Preliminary results and methodological lessons","authors":"Lucie Thomas ,&nbsp;Lynne Aitkenhead ,&nbsp;Karolina M. Stepien ,&nbsp;Alison Woodall ,&nbsp;Anita Macdonald ,&nbsp;Cristina Romani","doi":"10.1016/j.ymgmr.2024.101160","DOIUrl":"10.1016/j.ymgmr.2024.101160","url":null,"abstract":"<div><div>The first cohort of early-treated adults with phenylketonuria (PKU) is reaching middle-age and moving towards old age. We do not know if and how the effects of an aging brain may interact with the effect of PKU. This study compared wellbeing and cognition in 19 middle-aged adults with PKU (age 40+ mean = 45.8) and in a younger adult PKU group (age 18–36 mean = 26.7). The middle-aged PKU group demonstrated more anxiety and depression, and more negative effects of the COVID-19 pandemic, compared to age-matched controls. They also demonstrated a steep deterioration of quality of life compared to younger adults with PKU. These last results confounded age with the effects of the pandemic, since only the older participants were tested during the COVID-19 pandemic, but taken together, results consistently point to AwPKU being less resilient to age and other life stressors affecting wellbeing. Regarding cognition, the older PKU group demonstrated significantly worse performance than the younger group, and within the middle-age groups, the effect of age was stronger in the PKU group than in the control, even though this was not statistically significant. In contrast, size of impairment relative to an age-matched control group was numerically smaller in older, middle-age PKU group. We discuss possible methodological confounders related to this last result. Our study points to the challenges of using cross-sectional results to track performance across the lifespan and to the need to acquire more corroborating evidence before concluding there is no accelerating brain aging in PKU.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"41 ","pages":"Article 101160"},"PeriodicalIF":1.8,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142703989","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia","authors":"Cheng Luo ,&nbsp;Danxia Peng ,&nbsp;Yanyan Li ,&nbsp;Shuping Liu ,&nbsp;Qiong Wu ,&nbsp;Xuan Xu ,&nbsp;Jie Wen","doi":"10.1016/j.ymgmr.2024.101162","DOIUrl":"10.1016/j.ymgmr.2024.101162","url":null,"abstract":"<div><h3>Background</h3><div>Mannose phosphate isomerase deficiency-congenital glycosylation disorders (MPI-CDG) is a rare autosomal recessive disorder caused by pathogenic variants in the <em>MPI</em> gene and characterized by digestive, hepatic, and endocrine-related symptoms. Herein, we reported a case of a 4-month-old baby with MPI-CDG confirmed by genetic testing.</div></div><div><h3>Case summary</h3><div>Based on the age of the child and the present clinical symptoms (feeding difficulties, intractable diarrhea, vomiting, hepatosplenomegaly, recurrent hypoglycemia, coagulation disorder, and hypoproteinemia under the premise of anti-infection therapy), congenital glycosylation disorder was suspected, which was then confirmed by genetic testing. Her father carried a heterozygous deletion variant of exons 1–2 of the <em>MPI</em> gene, while her mother carried a heterozygous variant of C. 422C &gt; T variant. It was suspected that a biallelic pathogenic variant of the <em>MPI</em> gene caused the CDG.</div></div><div><h3>Conclusion</h3><div>MPI-CDG should be considered in infancy with unexplained hypoglycemia and recurrent digestive and endocrine system involvement. Also, if evident symptoms are present, a gene examination should be performed, as this could speed up the diagnosis assuring timely treatment.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"41 ","pages":"Article 101162"},"PeriodicalIF":1.8,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142703990","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}