The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem.
JIMD Rep
; 64(3): 233-237, 2023 May.
Article
in English
| MEDLINE | ID: covidwho-2314587
ABSTRACT
Urea cycle disorders (UCDs) comprise a group of inborn errors of metabolism with impaired ammonia clearance and an incidence of ~135 000 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.
Full text:
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Collection:
International databases
Database:
MEDLINE
Type of study:
Case report
/
Observational study
/
Randomized controlled trials
Language:
English
Journal:
JIMD Rep
Year:
2023
Document Type:
Article
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