A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease

Filippo Pinto e. Vairo, Bruna Cristine Chwal, Silvana Perini, Maria Angélica Pires Ferreira, Ana Carolina de Freitas Lopes, Jonas Alex Morales Saute

Research output: Contribution to journalReview articlepeer-review

14 Scopus citations


Menkes disease is a rare X-linked neurodegenerative disorder caused by defect in copper metabolism. Parenteral copper supplementation has been used as a potential disease-modifying treatment of Menkes disease for decades. However, recent evidence suggests its efficacy only when treatment is started within days after birth, which also has important implications related to the techniques that enable early diagnosis. We aim at proposing a guideline for prenatal and neonatal diagnosis and for disease-modifying treatment of Menkes disease, guided by a systematic review of the literature, and built in conjunction with medical experts, methodologists and patient representatives. Thirteen articles were used for our recommendations that were based on GRADE system. Reviewed evidence suggests that prenatal genetic diagnosis in families with previous diagnosis of Menkes disease is feasible; analysis of plasma catecholamine levels is accurate for neonatal diagnosis of Menkes disease; treatment with copper-histidine is effective to increase survival and reduce neurologic burden of the disease if initiated in the neonatal period; and, treatment indication should not be guided by patient's genotype. In conclusion, our guideline can contribute to standardize some aspects of the clinical care of patients with Menkes disease, especially reducing disease burden and mortality and providers' and families' anxiety.

Original languageEnglish (US)
Pages (from-to)6-13
Number of pages8
JournalMolecular genetics and metabolism
Issue number1
StatePublished - Jan 2019


  • Copper histidine
  • Menkes disease
  • Neonatal diagnosis
  • Prenatal diagnosis
  • Treatment

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology


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