Long surviving classical Menkes disease treated with weekly intravenous copper therapy.
J Trace Elem Med Biol
; 54: 172-174, 2019 Jul.
Article
em En
| MEDLINE
| ID: mdl-31109608
ABSTRACT
Menkes diseases (MD) is an X-linked recessive neurodegenerative disorder of copper metabolism, characterized by progressive multisystemic involvement. Death in the early childhood is usually observed in classical patients. Although a definite cure has not been established, copper replacement therapy administered parenterally may modify the severity of MD and permitted survival into adolescence. Subcutaneous copper-histidine supplementation is the current choice of therapy, and long-term administration is not desirable because of the expected nephrotoxicity. We report here the case of a 29-year-old male with MD who tolerated long-term intravenous copper therapy initiated at 2 months. Molecular analysis revealed hemizygous deletion mutation of ATP7A previously reported in classical MD. Although neurodevelopement is poor, no major event of central nervous system is observed, and he enjoys a good social life by interacting using gestures. Optimum management is unknown, and closed follow-up is mandatory for clarification of this phenotype.
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Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Cobre
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Administração Intravenosa
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Síndrome dos Cabelos Torcidos
Limite:
Adult
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Humans
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Male
Idioma:
En
Revista:
J Trace Elem Med Biol
Assunto da revista:
METABOLISMO
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SAUDE AMBIENTAL
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Japão