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Article

Copper-histidine therapy in an infant with novel splice-site variant in the ATP7A gene of Menkes disease: the first experience in South East Asia and literature review.

BMJ case reports - 7 Apr 2022

Panichsillaphakit Ekkarit, Kwanbunbumpen Tanisa, Chomtho Sirinuch, Visuthranukul Chonnikant

Abstract excerpt

Menkes disease (MD) is an X linked recessive multi-systemic disorder of copper metabolism, resulting from an ATP7A gene mutation. We report a male infant aged 4 months who presented with kinky hair, hypopigmented skin, epilepsy and delayed development. Magnetic resonance imaging (MRI) of brain demonstrated multiple tortuosities of intracranial vessels and brain atrophy. Investigation had showed markedly decreased...

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Identifiers

PMID: 35393273
DOI: 10.1136/bcr-2021-247937
PMCID: PMC8991052

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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