Severe First Presentation of Ornithine Transcarbamylase Deficiency in a Female Child Following Hyperammonemia Resolution (P10-6.004)

•To present a female patient with a severe first presentation of ornithine transcarbamylase (OTC) deficiency•To report status epilepticus after hyperammonemia initially resolved

Authors

Katherine Wojcicki
Grace Marie Biso (ORCID: https://orcid.org/0009-0008-2823-1026)

Institutions

SUNY Upstate Medical University (US)

Publication Details

Journal: Neurology
Published: 2025-04-07
DOI: https://doi.org/10.1212/wnl.0000000000211069
Primary Topic: Metabolism and Genetic Disorders
Type: article
Field-Weighted Citation Impact: 0.00

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article

Severe First Presentation of Ornithine Transcarbamylase Deficiency in a Female Child Following Hyperammonemia Resolution (P10-6.004)

Katherine Wojcicki, Grace Marie Biso

Apr 7, 2025

Neurology

Metabolism and Genetic Disorders

article

Severe First Presentation of Ornithine Transcarbamylase Deficiency in a Female Child Following Hyperammonemia Resolution (P10-6.004)

Katherine Wojcicki, Grace Marie Biso

April 7, 2025article en

Abstract

•To present a female patient with a severe first presentation of ornithine transcarbamylase (OTC) deficiency•To report status epilepticus after hyperammonemia initially resolved

NeurologyVol. 104(7_Supplement_1)

SUNY Upstate Medical University (US)

Gender equality

Openalex Percentile: Top 91%

Metabolism and Genetic Disorders

DOI Source OpenAlex

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Severe First Presentation of Ornithine Transcarbamylase Deficiency in a Female Child Following Hyperammonemia Resolution (P10-6.004) — Katherine Wojcicki, Grace Marie Biso · Neurology (2025) | TGRS Research Map | TGRS