Menckes Disease: From Clinical Evaluation to Molecular Diagnosis and New Therapies

Menkes disease is a rare, X-linked copper transport disorder whose prognosis depends largely on early diagnosis and treatment. This monograph provides a practical and up-to-date review of its pathophysiology, genetics, clinical spectrum, diagnosis, treatment, and follow-up, with special attention to neurological manifestations and infantile epilepsy.Based on two real clinical cases, the monograph integrates the key phenotypic, biochemical, trichoscopic, radiological, and molecular features that enable the recognition of the disease and its differentiation from other epileptic and neurometabolic encephalopathies. It also addresses atypical forms associated with ATP7A, genetic counseling, and new therapeutic approaches, including copper histidinate, elesclomol-copper, gene therapy, and neonatal screening.This book is intended for pediatricians and other professionals interested in rare diseases, designed to facilitate clinical suspicion and decision-making in a disease where time is of the essence.