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  1. Article ; Online: Cerebrospinal fluid 2-hydroxyglutarate as a monitoring biomarker for IDH-mutant gliomas.

    Riviere-Cazaux, Cecile / Lacey, Jean M / Carlstrom, Lucas P / Laxen, William J / Munoz-Casabella, Amanda / Hoplin, Matthew D / Ikram, Samar / Zubair, Abdullah Bin / Andersen, Katherine M / Warrington, Arthur E / Decker, Paul A / Kaufmann, Timothy J / Campian, Jian L / Eckel-Passow, Jeanette E / Kizilbash, Sani H / Tortorelli, Silvia / Burns, Terry C

    Neuro-oncology advances

    2023  Volume 5, Issue 1, Page(s) vdad061

    Language English
    Publishing date 2023-05-11
    Publishing country England
    Document type Journal Article
    ZDB-ID 3009682-0
    ISSN 2632-2498 ; 2632-2498
    ISSN (online) 2632-2498
    ISSN 2632-2498
    DOI 10.1093/noajnl/vdad061
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Cerebrospinal fluid 2-hydroxyglutarate (2-HG) as a monitoring biomarker for IDH-mutant gliomas.

    Riviere-Cazaux, Cecile / Lacey, Jean M / Carlstrom, Lucas P / Laxen, William J / Munoz-Casabella, Amanda / Hoplin, Matthew D / Ikram, Samar / Zubair, Abdullah Bin / Andersen, Katherine M / Warrington, Arthur E / Decker, Paul A / Kaufmann, Timothy J / Campian, Jian L / Eckel-Passow, Jeanette E / Kizilbash, Sani H / Tortorelli, Silvia / Burns, Terry C

    medRxiv : the preprint server for health sciences

    2023  

    Abstract: D-2-hydroxyglutarate (D-2-HG) is a well-established oncometabolite of isocitrate dehydrogenase (IDH) mutant gliomas. While prior studies have demonstrated that D-2-HG is elevated in the cerebrospinal fluid (CSF) of patients with IDH-mutant ... ...

    Abstract D-2-hydroxyglutarate (D-2-HG) is a well-established oncometabolite of isocitrate dehydrogenase (IDH) mutant gliomas. While prior studies have demonstrated that D-2-HG is elevated in the cerebrospinal fluid (CSF) of patients with IDH-mutant gliomas
    Language English
    Publishing date 2023-03-02
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.03.01.23286412
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduria.

    Perales-Clemente, Ester / Hewitt, Angela L / Studinski, April L / Tillema, Jan-Mendelt / Laxen, William J / Oglesbee, Devin / Graff, Arne H / Rinaldo, Piero / Lanpher, Brendan C

    JIMD reports

    2020  Volume 58, Issue 1, Page(s) 21–28

    Abstract: Introduction: Nonaccidental trauma (NAT) is considered when pediatric patients present with intracranial injuries and a negative history of an accidental injury or concomitant medical diagnosis. The evaluation of NAT should include the consideration of ... ...

    Abstract Introduction: Nonaccidental trauma (NAT) is considered when pediatric patients present with intracranial injuries and a negative history of an accidental injury or concomitant medical diagnosis. The evaluation of NAT should include the consideration of possible medical causes including coagulation, hematologic, metabolic and other genetic disorders, as well as witnessed and unwitnessed accidental injuries.
    Case presentation: We present a 7-month-old male with spells and incidental findings of bilateral subdural hematomas, retinal hemorrhages, and secondary macrocephaly, leading to investigation for NAT. Biochemical analysis showed excretion of a large amount of D-2-hydroxyglutaric in urine consistent with a biochemical diagnosis of D-2-hydroxyglutaric aciduria, a rare neurometabolic disorder characterized by developmental delay, epilepsy, hypotonia, and psychomotor retardation. None of these symptoms were present in our patient at the time of diagnosis. Molecular genetic testing revealed a pathogenic splice site variant (c.685-2A>G) and a variant of uncertain significance (c.1256G>T) with evidence of pathogenicity in the
    Conclusion: Since several metabolic disorders, including D-2-hydroxyglutaric aciduria type I, can present solely with symptoms suggestive of NAT (subdural and retinal hemorrhages), an early metabolic evaluation by urine organic acid analysis should be included in clinical protocols evaluating NAT. A methodical and nonjudgmental approach coordinated between pediatricians and metabolic specialists is also necessary to ensure that rare genetic conditions are not overlooked to prevent devastating social, legal, and financial consequences of suspected child abuse.
    Language English
    Publishing date 2020-11-20
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2672872-2
    ISSN 2192-8312 ; 2192-8304
    ISSN (online) 2192-8312
    ISSN 2192-8304
    DOI 10.1002/jmd2.12188
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia.

    Wenger, Olivia / Brown, Miraides / Smith, Brandon / Chowdhury, Devyani / Crosby, Andrew H / Baple, Emma L / Yoder, Mark / Laxen, William / Tortorelli, Silvia / Strauss, Kevin A

    Molecular genetics and metabolism

    2020  Volume 131, Issue 3, Page(s) 316–324

    Abstract: Propionic acidemia (PA) is caused by inherited deficiency of mitochondrial propionyl-CoA carboxylase (PCC) and results in significant neurodevelopmental and cardiac morbidity. However, relationships among therapeutic intervention, biochemical markers, ... ...

    Abstract Propionic acidemia (PA) is caused by inherited deficiency of mitochondrial propionyl-CoA carboxylase (PCC) and results in significant neurodevelopmental and cardiac morbidity. However, relationships among therapeutic intervention, biochemical markers, and disease progression are poorly understood. Sixteen individuals homozygous for PCCB c.1606A > G (p.Asn536Asp) variant PA participated in a two-week suspension of therapy. Standard metabolic markers (plasma amino acids, blood spot methylcitrate, plasma/urine acylcarnitines, urine organic acids) were obtained before and after stopping treatment. These same markers were obtained in sixteen unaffected siblings. Echocardiography and electrocardiography were obtained from all subjects. We characterized the baseline biochemical phenotype of untreated PCCB c.1606A > G homozygotes and impact of treatment on PCC deficiency biomarkers. Therapeutic regimens varied widely. Suspension of therapy did not significantly alter branched chain amino acid levels, their alpha-ketoacid derivatives, or urine ketones. Carnitine supplementation significantly increased urine propionylcarnitine and its ratio to total carnitine. Methylcitrate blood spot and urine levels did not correlate with other biochemical measures or cardiac outcomes. Treatment of PCCB c.1606A > G homozygotes with protein restriction, prescription formula, and/or various dietary supplements has a limited effect on core biomarkers of PCC deficiency. These patients require further longitudinal study with standardized approaches to better understand the relationship between biomarkers and disease burden.
    MeSH term(s) Acids/blood ; Acids/urine ; Adolescent ; Adult ; Amino Acids/blood ; Amino Acids/urine ; Biomarkers/blood ; Biomarkers/urine ; Carbon-Carbon Ligases/blood ; Carbon-Carbon Ligases/genetics ; Carbon-Carbon Ligases/urine ; Carnitine/blood ; Carnitine/urine ; Child ; Child, Preschool ; Echocardiography ; Female ; Heart/diagnostic imaging ; Heart/physiopathology ; Humans ; Male ; Mitochondria/genetics ; Mitochondria/metabolism ; Mutation/genetics ; Neurodevelopmental Disorders/blood ; Neurodevelopmental Disorders/diagnostic imaging ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/urine ; Organic Chemicals/blood ; Organic Chemicals/urine ; Phenotype ; Propionic Acidemia/blood ; Propionic Acidemia/diagnostic imaging ; Propionic Acidemia/genetics ; Propionic Acidemia/urine ; Young Adult
    Chemical Substances Acids ; Amino Acids ; Biomarkers ; Organic Chemicals ; Carbon-Carbon Ligases (EC 6.4.-) ; PCCB protein, human (EC 6.4.-) ; Carnitine (S7UI8SM58A)
    Language English
    Publishing date 2020-10-03
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1418518-0
    ISSN 1096-7206 ; 1096-7192
    ISSN (online) 1096-7206
    ISSN 1096-7192
    DOI 10.1016/j.ymgme.2020.09.006
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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  5. Article: The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.

    Guenzel, Adam J / Hall, Patricia L / Scott, Anna I / Lam, Christina / Chang, Irene J / Thies, Jenny / Ferreira, Carlos R / Pichurin, Pavel / Laxen, William / Raymond, Kimiyo / Gavrilov, Dimitar K / Oglesbee, Devin / Rinaldo, Piero / Matern, Dietrich / Tortorelli, Silvia

    JIMD reports

    2021  Volume 60, Issue 1, Page(s) 67–74

    Abstract: Background: Glutaric acidemia type I (GA1) is an organic acidemia that is often unrecognized in the newborn period until patients suffer an acute encephalopathic crisis, which can be mistaken for nonaccidental trauma. Presymptomatic identification of ... ...

    Abstract Background: Glutaric acidemia type I (GA1) is an organic acidemia that is often unrecognized in the newborn period until patients suffer an acute encephalopathic crisis, which can be mistaken for nonaccidental trauma. Presymptomatic identification of GA1 patients is possible by newborn screening (NBS). However, the biochemical "low-excretor" (LE) phenotype with nearly normal levels of disease metabolites can be overlooked, which may result in untreated disease and irreversible neurological sequelae. The LE phenotype is also a potential source of false negative (FN) NBS results that merits further investigation.
    Methods: Samples from six LE GA1 patients were analyzed by biochemical and molecular methods and newborn screen outcomes were retrospectively investigated.
    Results: Five LE GA1 patients were identified that had normal NBS results and three of these presented clinically with GA1 symptoms. One additional symptomatic patient was identified who did not undergo screening. Semiquantitative urine organic acid analysis was consistent with a GA1 diagnosis in two (33%) of the six patients, while plasma glutarylcarnitine was elevated in four (67%) of the six and urine glutarylcarnitine was elevated in four (80%) of five patients. Five
    Conclusions: The data presented here raise awareness of potential FN NBS results for LE GA1 patients. The LE phenotype is not protective against adverse clinical outcomes, and the possibility of FN NBS results calls for high vigilance amongst clinicians, even in the setting of a normal NBS result.
    Language English
    Publishing date 2021-04-05
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2672872-2
    ISSN 2192-8312 ; 2192-8304
    ISSN (online) 2192-8312
    ISSN 2192-8304
    DOI 10.1002/jmd2.12217
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Genetic therapy in a mitochondrial disease model suggests a critical role for liver dysfunction in mortality.

    Sabharwal, Ankit / Wishman, Mark D / Cervera, Roberto Lopez / Serres, MaKayla R / Anderson, Jennifer L / Holmberg, Shannon R / Kar, Bibekananda / Treichel, Anthony J / Ichino, Noriko / Liu, Weibin / Yang, Jingchun / Ding, Yonghe / Deng, Yun / Lacey, Jean M / Laxen, William J / Loken, Perry R / Oglesbee, Devin / Farber, Steven A / Clark, Karl J /
    Xu, Xiaolei / Ekker, Stephen C

    eLife

    2022  Volume 11

    Abstract: The clinical and largely unpredictable heterogeneity of phenotypes in patients with mitochondrial disorders demonstrates the ongoing challenges in the understanding of this semi-autonomous organelle in biology and disease. Previously, we used the gene- ... ...

    Abstract The clinical and largely unpredictable heterogeneity of phenotypes in patients with mitochondrial disorders demonstrates the ongoing challenges in the understanding of this semi-autonomous organelle in biology and disease. Previously, we used the gene-breaking transposon to create 1200 transgenic zebrafish strains tagging protein-coding genes (Ichino et al., 2020), including the
    MeSH term(s) Animals ; Canada ; Genetic Therapy ; Liver Diseases/genetics ; Liver Diseases/therapy ; Mitochondrial Diseases/genetics ; Mitochondrial Diseases/therapy ; Neoplasm Proteins/genetics ; Zebrafish/genetics ; Disease Models, Animal
    Chemical Substances Neoplasm Proteins
    Language English
    Publishing date 2022-11-21
    Publishing country England
    Document type Journal Article
    ZDB-ID 2687154-3
    ISSN 2050-084X ; 2050-084X
    ISSN (online) 2050-084X
    ISSN 2050-084X
    DOI 10.7554/eLife.65488
    Database MEDical Literature Analysis and Retrieval System OnLINE

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