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Retrospective review of urine organic acids data from patients with citrullinemia type I – Looking for the ‘cyclic derivative of citrulline’
IF 3.7 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-02-07 DOI: 10.1016/j.ymgme.2025.109053
Stephen A. Brose , Judith A. Hobert
European Research Network for evaluation and improvement of screening, Diagnosis, and treatment of Inherited disorders of Metabolism (ERNDIM) provides proficiency testing to clinical laboratories that offer biochemical testing, including urine organic acids analysis. Following an educational challenge, ERNDIM provided a mass spectrum of the ‘trimethylsilyl derivative of cyclic derivative of citrulline’ to participating laboratories. Though there is knowledge among some in the biochemical genetics' community, that the cyclic derivative of citrulline can be identified in urine of patients with citrullinemia type I, we could not find any published literature regarding this analyte in patient samples, nor were able to obtain any standard material. We did note two publications that proposed chemical structures for the cyclic derivative of citrulline, but neither suggested a clinical utility for this compound and the two proposed structures differed. Here, we used the mass spectrum provided by ERNDIM to retrospectively evaluate existing urine organic acids data from patients affected with conditions associated with elevated levels of plasma citrulline to learn more about this marker in urine and to correlate it with plasma citrulline data in diagnostic and follow-up samples. We document a positive correlation between the concentration of this compound in patient urine and the concentration of citrulline in concurrently collected plasma. We establish that this analyte is a good marker for citrullinemia type I but is not unique to this condition. Finally, we correlate the mass spectrum with the chemical structure originally proposed by Wilson et al. in 1978.
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引用次数: 0
The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism
IF 3.7 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-02-04 DOI: 10.1016/j.ymgme.2025.109051
Itay Tokatly Latzer , Ellen Hanson , Mariarita Bertoldi , Melissa L. DiBacco , Deniz Aygun , Onur Afacan , Àngeles García-Cazorla , Natalia Juliá-Palacios , Thomas Opladen , Oya Kuseyri Hübschmann , Kathrin Jeltsch , Petra Aden , Mari Oppebøen , Alexander Rotenberg , Melissa Tsuboyama , Jean-Baptiste Roullet , Phillip L. Pearl

Background and objectives

Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder resulting in hyper-physiologic concentrations of the neurotransmitter γ-aminobutyrate (GABA). This study aims to provide the most comprehensive description, to date, of the neuropsychological profile of individuals with SSADHD and assess whether neuroimaging, neurophysiologic, and biochemical indices of cortical inhibition correlate with those of standardized behavioral tests.

Methods

Participants enrolled in the SSADHD Natural History Study underwent medical and neurological examinations, magnetic resonance imaging (MRI) and spectroscopy (MRS), biochemical tests of GABA and its related metabolites, transcranial magnetic stimulation (TMS), and gene expression quantification, as well as complete neuropsychological assessment including standardized measures for cognition, adaptive skills, motor function, receptive and expressive language, autism spectrum disorder, and behavior problems.

Results

The neuropsychological profile of the study's 65 enrollees [54 % females, median (interquartile range) age 9.6 (5.4–14.7)] consisted almost universally of intellectual disability, delays in adaptive skills, and deficits in expressive more than receptive language. Autism Spectrum Disorder was noted in ∼50 %, and behavioral problems in ∼70 %, predominated by obsessive-compulsive behaviors and attention problems but also including affective problems, anxiety, and, rarely, aggression and possible psychosis. Correlation analyses showed that increased internalizing, externalizing, and overall psychiatric morbidity significantly correlated with increasing age (R = 0.391, p = 0.033), as well as age-independent indices representing decreased cortical inhibition such as lower MRS-derived GABA (R = −0.530, p = 0.029) and TMS-derived resting motor threshold (R = −0.418, p = 0.053).

Discussion

The natural history study of SSADHD indicates that intellectual disability, delayed adaptive skills, and expressive>receptive language deficits are nearly universal, with behavior problems in the vast majority. Increased psychiatric morbidity in SSADHD with age-independent decreased cortical inhibition may serve as the basis for establishing disorder-specific biomarkers for behavioral and psychiatric outcomes in SSADHD and other non-syndromic psychiatric disorders.
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引用次数: 0
Causes of mortality in the congenital disorders of glycosylation
IF 3.7 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-02-04 DOI: 10.1016/j.ymgme.2025.109052
Hana Alharbi , Seishu Horikoshi , Sabrina Malone Jenkins , Fernando Scaglia , Christina Lam , Eva Morava , Austin Larson , Andrew C. Edmondson
Congenital Disorders of Glycosylation (CDG) are a group of some 200 genetic disorders with PMM2-CDG being the most common disease. These disorders individually remain rare with poorly understood natural history (NH) and causes of mortality. We established a NH study for CDG and collected both prospective and retrospective data on CDG outcomes. In the current data set analysis on deceased patients, we describe the clinical phenotype and causes of death for thirty-seven individuals with various genetic causes of CDG. About a third of this cohort were affected with PMM2-CDG. All of the patients presented with multisystem features with involvement of the neurological system. The majority of patients involved in this study died during the first three years of life, and only four patients lived beyond ten years. The cause of death was unavailable for two patients, and about a third died secondary to cardiopulmonary failure. Progression of neurological involvement, sepsis and respiratory infection were also among the reported causes. Pericardial effusion was the primary cause of death for three infants affected with PMM2-CDG. This study emphasizes the importance of diagnosis and supportive care following the published monitoring and management guidelines for affected patients with CDG to optimize their health and development in the early stages of the disease.
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引用次数: 0
The ELOVL proteins: Very and ultra long-chain fatty acids at the crossroads between metabolic and neurodegenerative disorders
IF 3.7 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-02-04 DOI: 10.1016/j.ymgme.2025.109050
Enza Ferrero , Frédéric M. Vaz , David Cheillan , Alfredo Brusco , Cecilia Marelli
In lipid metabolism, the fatty acid (FA) elongation system synthesises a wide array of FAs, crucial for various biological functions. The role of this system is to lengthen FA carbon chains to produce FAs with ≥C16, and notably, very long-chain FAs (VLCFAs, C24-C26) and ultra long-chain FAs (ULCFAs, C28 to ≥C36). Elongation occurs in the endoplasmic reticulum (ER) through the actions of a complex of four ER-embedded enzymes, which includes the ELOVL proteins. Together with desaturases that introduce double bonds, these processes significantly increase the variety of FAs. VLCFAs and ULCFAs are required for the biosynthesis of complex lipids, notably glycero(phospho)lipids, ether(phospho)lipids and sphingolipids. The FA elongation system is therefore fundamental for membrane biogenesis and lipid homeostasis, and also for signalling pathways associated with inflammation and cell proliferation. This review focuses on the elongase enzymes, encoded by the ELOVL genes, which catalyze the first and rate-limiting step of the FA elongation cycle. We summarize the physiological roles of the elongase system, with emphasis on the less-characterized ULCFAs, their biological functions, and the functional tools, biomarkers and lipidomic studies used to study them. Additionally, we discuss how ELOVL enzyme defects contribute to disorders at the intersection of metabolic and neurodegenerative conditions, driven by disrupted lipid metabolism and misfolded enzymes in the ER and Golgi.
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引用次数: 0
Imaging improvement in acid sphingomyelinase deficiency on enzyme replacement therapy. 酸性鞘磷脂酶缺乏症患者接受酶替代疗法后的影像学改善。
IF 3.7 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-02-01 Epub Date: 2024-11-14 DOI: 10.1016/j.ymgme.2024.108611
William L Simpson, Jaya Ganesh
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引用次数: 0
Effective coordination of family screening to facilitate early diagnosis of Fabry disease
IF 3.7 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108682
Claudia L. Church Smith , Sarah J. Steeds , Natalie Tuzcuoglu , Christopher J. Wingrove , Laura A. Boyes , Katherine Aitchison , Claire Radford , Tarekegn Geberhiwot , Rick Steeds
{"title":"Effective coordination of family screening to facilitate early diagnosis of Fabry disease","authors":"Claudia L. Church Smith ,&nbsp;Sarah J. Steeds ,&nbsp;Natalie Tuzcuoglu ,&nbsp;Christopher J. Wingrove ,&nbsp;Laura A. Boyes ,&nbsp;Katherine Aitchison ,&nbsp;Claire Radford ,&nbsp;Tarekegn Geberhiwot ,&nbsp;Rick Steeds","doi":"10.1016/j.ymgme.2024.108682","DOIUrl":"10.1016/j.ymgme.2024.108682","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108682"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143127828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Phenotypic and genotypic expansion of mucopolysaccharidosis type II: A case with IDS c.817C > T variant detected through newborn screening
IF 3.7 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108652
Eliane Beauregard-Lacroix, Madeline Steffensen, Caitlin Menello, Can Ficicioglu
{"title":"Phenotypic and genotypic expansion of mucopolysaccharidosis type II: A case with IDS c.817C > T variant detected through newborn screening","authors":"Eliane Beauregard-Lacroix,&nbsp;Madeline Steffensen,&nbsp;Caitlin Menello,&nbsp;Can Ficicioglu","doi":"10.1016/j.ymgme.2024.108652","DOIUrl":"10.1016/j.ymgme.2024.108652","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108652"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143171890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Imaging flow cytometry (IFC) a novel tool for automated and standardized quantification of urine podocytes and their globotriaosylceramide (GL3) content in Fabry disease
IF 3.7 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108646
Alireza Ayoubi, Frank Dastvan, Behzad Najafian
{"title":"Imaging flow cytometry (IFC) a novel tool for automated and standardized quantification of urine podocytes and their globotriaosylceramide (GL3) content in Fabry disease","authors":"Alireza Ayoubi,&nbsp;Frank Dastvan,&nbsp;Behzad Najafian","doi":"10.1016/j.ymgme.2024.108646","DOIUrl":"10.1016/j.ymgme.2024.108646","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108646"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143171891","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Long term follow up of bone mineral density in Egyptian Gaucher disease type 3 patients on enzyme replacement therapy
IF 3.7 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108628
Magy Abdelwahab
{"title":"Long term follow up of bone mineral density in Egyptian Gaucher disease type 3 patients on enzyme replacement therapy","authors":"Magy Abdelwahab","doi":"10.1016/j.ymgme.2024.108628","DOIUrl":"10.1016/j.ymgme.2024.108628","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108628"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143172949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
AAV9-based gene replacement therapy targeting the root cause for the treatment of MPS IIID in mice
IF 3.7 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108631
Pratikshya Adhikari, Neil Sud, Tierra Bobo, Haiyan Fu
{"title":"AAV9-based gene replacement therapy targeting the root cause for the treatment of MPS IIID in mice","authors":"Pratikshya Adhikari,&nbsp;Neil Sud,&nbsp;Tierra Bobo,&nbsp;Haiyan Fu","doi":"10.1016/j.ymgme.2024.108631","DOIUrl":"10.1016/j.ymgme.2024.108631","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108631"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143172951","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Molecular genetics and metabolism
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