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  • 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

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Case Reports: Rare disease
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
  1. Ekkarit Panichsillaphakit1,
  2. Tanisa Kwanbunbumpen1,
  3. Sirinuch Chomtho2 and
  4. Chonnikant Visuthranukul2
  1. 1Division of Nutrition, Department of Pediatrics, Faculty of Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand
  2. 2Pediatric Nutrition Research Unit, Division of Nutrition, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, The Thai Red Cross Society, Bangkok, Thailand
  1. Correspondence to Dr Chonnikant Visuthranukul; chonnikant.v{at}chula.ac.th

Abstract

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 serum copper and ceruloplasmin. The novel c.2172+1G>T splice-site mutation in the ATP7A gene confirmed MD. He was treated with subcutaneous administration of locally prepared copper-histidine (Cu-His). Following the therapy, hair manifestation was restored and serum ceruloplasmin was normalised 1 month later. Despite the treatment, epilepsy, neurodevelopment and osteoporosis still progressed. He died from severe respiratory tract infection at the age of 9.5 months. These findings suggest that the benefit of Cu-His in our case is limited which might be related to severe presentations and degree of ATP7A mutation.

  • metabolic disorders
  • genetics

https://doi.org/10.1136/bcr-2021-247937

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    Footnotes

    • Contributors EP reviewed articles, participated in generation of the tables and figures and drafted the initial manuscript. TK collected the data, CV and SC critically revised the content of the manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.