P425: Intermediate form of Menkes in an African American individual: A case report

Genetics in Medicine Open 2026 Open access

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Authors: Katherine Cioffi, Emily Stuebing, Brittany Elle Cooper, Damara N. Ortiz, Suneeta Madan‐Khetarpal
DOI: 10.1016/j.gimo.2026.103919
Cited by: 0

Abstract

His first seizure was at 2.5 years old (febrile) and Keppra and Vimpat were started. He began copper histidine therapy via daily subcutaneous injections at 2 years and 11 months. He follows with a multidisciplinary team including Genetics, Neurology, Gastroenterology, Physical Medicine and Rehabilitation, Pulmonology, and Complex Care.

Fields of Study & Subjects

Trace Elements in Health Metabolism and Genetic Disorders Neurological diseases and metabolism

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103919–103919
Publication date
1 January 2026
Language
EN