The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem
Abstract Urea cycle disorders (UCDs) comprise a group of inborn errors of metabolism with impaired ammonia clearance and an incidence of ~1:35 000 individuals. First described in the 1970s, the diagnosis and management of these disorders has evolved dramatically. We report on a 59‐year‐old woman wit...
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2023-05-01
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| Series: | JIMD Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/jmd2.12361 |
| _version_ | 1797833171312574464 |
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| author | RaeLynn Forsyth Ryan H. Peretz Angela Dempsey Jacquelyn Britton Lisa Kratz Ada Hamosh Hilary Vernon Mark L. Batshaw David Valle |
| author_facet | RaeLynn Forsyth Ryan H. Peretz Angela Dempsey Jacquelyn Britton Lisa Kratz Ada Hamosh Hilary Vernon Mark L. Batshaw David Valle |
| author_sort | RaeLynn Forsyth |
| collection | DOAJ |
| description | Abstract Urea cycle disorders (UCDs) comprise a group of inborn errors of metabolism with impaired ammonia clearance and an incidence of ~1:35 000 individuals. First described in the 1970s, the diagnosis and management of these disorders has evolved dramatically. We report on a 59‐year‐old woman with a UCD who contributed to advances in the understanding and treatment of this group of disorders. This individual was diagnosed with carbamoyl phosphate synthetase 1 deficiency based on a biochemical assay under a research context predating genetic sequencing, treated longitudinally as having this metabolic disorder, and was among the first participants to trial UCD pharmaceutical therapies. She ultimately succumbed to a SARS‐CoV‐2 infection while maintaining unexpectedly normal ammonium levels. Postmortem genetic testing revealed ornithine transcarbamylase deficiency. This individual's contributions to the field of UCDs is discussed herein. |
| first_indexed | 2024-04-09T14:19:09Z |
| format | Article |
| id | doaj.art-08f12e26bdad4c98bbf06f0a94ea5ee3 |
| institution | Directory Open Access Journal |
| issn | 2192-8312 |
| language | English |
| last_indexed | 2024-04-09T14:19:09Z |
| publishDate | 2023-05-01 |
| publisher | Wiley |
| record_format | Article |
| series | JIMD Reports |
| spelling | doaj.art-08f12e26bdad4c98bbf06f0a94ea5ee32023-05-05T02:40:58ZengWileyJIMD Reports2192-83122023-05-0164323323710.1002/jmd2.12361The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortemRaeLynn Forsyth0Ryan H. Peretz1Angela Dempsey2Jacquelyn Britton3Lisa Kratz4Ada Hamosh5Hilary Vernon6Mark L. Batshaw7David Valle8Department of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland USANational Human Genome Research Institute National Institutes of Health Bethesda Maryland USADepartment of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland USADepartment of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland USABiochemical Genetics Laboratory Kennedy Krieger Institute Baltimore Maryland USADepartment of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland USADepartment of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland USACenter for Genetic Medicine Research Children's National Hospital Washington DC USADepartment of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland USAAbstract Urea cycle disorders (UCDs) comprise a group of inborn errors of metabolism with impaired ammonia clearance and an incidence of ~1:35 000 individuals. First described in the 1970s, the diagnosis and management of these disorders has evolved dramatically. We report on a 59‐year‐old woman with a UCD who contributed to advances in the understanding and treatment of this group of disorders. This individual was diagnosed with carbamoyl phosphate synthetase 1 deficiency based on a biochemical assay under a research context predating genetic sequencing, treated longitudinally as having this metabolic disorder, and was among the first participants to trial UCD pharmaceutical therapies. She ultimately succumbed to a SARS‐CoV‐2 infection while maintaining unexpectedly normal ammonium levels. Postmortem genetic testing revealed ornithine transcarbamylase deficiency. This individual's contributions to the field of UCDs is discussed herein.https://doi.org/10.1002/jmd2.12361CPS1hypothermiaintellectual disabilityornithine transcarbamylase deficiencyOTCsevere SARS‐CoV‐2 infection |
| spellingShingle | RaeLynn Forsyth Ryan H. Peretz Angela Dempsey Jacquelyn Britton Lisa Kratz Ada Hamosh Hilary Vernon Mark L. Batshaw David Valle The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem JIMD Reports CPS1 hypothermia intellectual disability ornithine transcarbamylase deficiency OTC severe SARS‐CoV‐2 infection |
| title | The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem |
| title_full | The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem |
| title_fullStr | The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem |
| title_full_unstemmed | The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem |
| title_short | The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem |
| title_sort | remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post mortem |
| topic | CPS1 hypothermia intellectual disability ornithine transcarbamylase deficiency OTC severe SARS‐CoV‐2 infection |
| url | https://doi.org/10.1002/jmd2.12361 |
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