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narrative_review·internal medicine, pediatrics, clinical nutrition, neurology·PMC10453542

Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency

Children · 6 authors, 7 centres

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TL;DR

It concludes that early diagnosis is crucial to prevent life-threatening hyperammonemia and that emerging therapies may improve patient outcomes.

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117 CHARS

A key implication is the importance of early diagnosis, as even asymptomatic patients are at risk for decompensation.

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narrative_review

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internal medicine

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AI pipeline

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100% · A

ORIGINAL PAPER

PMC10453542

Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency

Children

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ABSTRACT

Abstract Ornithine transcarbamylase deficiency (OTCD) is the most common inherited disorder of the urea cycle and, in general, is transmitted as an X-linked recessive trait. Defects in the OTC gene cause an impairment in ureagenesis, resulting in hyperammonemia, which is a direct cause of brain damage and death. Patients with late-onset OTCD can develop symptoms from infancy to later childhood, adolescence or adulthood. Clinical manifestations of adults with OTCD vary in acuity. Clinical symptoms can be aggravated by metabolic stressors or the presence of a catabolic state, or due to increased demands upon the urea. A prompt diagnosis and relevant biochemical and genetic investigations allow the rapid introduction of the right treatment and prevent long-term complications and mortality. This narrative review outlines challenges in diagnosing and managing patients with late-onset OTCD. Keywords: late-onset OTC deficiency, urea cycle disorders, clinical manifestations, adults

CITATION EXPORT

Majitha Seyed Ibrahim, Jessica I Gold, Alison Woodall et al.. Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency. Children. (2023). https://doi.org/10.3390/children10081368

AUTHORS

6 · 7 CENTRES

Majitha Seyed Ibrahim, Jessica I Gold, Alison Woodall, Berna Seker Yilmaz, Paul Gissen, Karolina M Stepien

1Department of Chemical Pathology, Teaching Hospital Batticaloa, Batticaloa 30000, Sri Lanka
2Division of Human Genetics, Department of Pediatrics, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA
3Adult Inherited Metabolic Diseases, Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Salford M6 8HD, UK
4Great Ormond Street Institute of Child Health, University College London, London WC1E 6BT, UK
5Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UK
6National Institute of Health Research, Great Ormond Street Biomedical Research Centre, London WC1N 1EH, UK
7Division of Cardiovascular Sciences, University of Manchester, Manchester M13 9PL, UK