Menkes Kinky Hair Syndrome: Is it a treatable disorder?

Abstract

A male infant with Menkes Kinky Hair Syndrome was treated with a 3‐week course of cupric acetate infusions, which was terminated when he developed aminoaciduria. The lack of improvement seen in this infant is representative of the reported experience with parenteral copper therapy in this condition, and may be attributable to the presence of a clinically significant abnormality in copper metabolism in utero.

Neonatal Diagnosis and Treatment of Menkes Disease

“…The variable outcomes after early treatment are not well understood. 11,13,20,21 In this study, we prospectively evaluated the sensitivity and specificity of plasma neurochemical analysis for the diagnosis of Menkes disease, determined the clinical effect of early diagnosis and treatment, and investigated the molecular bases for treatment outcomes.…”

Urological complications and copper replacement therapy in childhood Menkes syndrome

“…The number of patients under Cu therapy was 30/57 (52.6%), of which 26 (45.6%) [6,9,11,13, 16 Á20,22,27,30,32,34] underwent Cu-histidinate therapy and 4 (7.3%) other Cu formulae (Cu-SO 4 , Cu-acetate, Cu-EDTA, unspecified Cu salts) [23,24,26,31]. The age range was 1 mo Á16 y (mean 4.89/4.2 y); eight of them were deceased.…”

Urological complications and copper replacement therapy in childhood Menkes syndrome

“…The number of patients under Cu therapy was 30/57 (52.6%), of which 26 (45.6%) 6,911,1316–2022,2730,3234 underwent Cu‐histidinate therapy and 4 (7.3%) other Cu formulae (Cu‐SO 4 , Cu‐acetate, Cu‐EDTA, unspecified Cu salts) 23,2426,31. The age range was 1 mo–16 y (mean 4.8±4.2 y); eight of them were deceased.…”

“…We retrospectively investigated a total of 57 paediatric patients 0–16 y old (32 different case reports), 55 of which were published between 1977 and 2004 5–35 and collected from NCBI's PubMed database (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi), and two of our own unpublished cases. Our cases were followed up at the Department of Paediatrics, University of Verona.…”