DEFECTIVE INTRACELLULAR COPPER TRANSLOCATION IN MENKES KINKY HAIR SYNDROME

Menkes kinky hair disease (Menkes syndrome). A case report.

Menkes disease (MD) is a rare genetic neurodegenerative disorder. It is caused by a mutation in the ATP7A gene, which codes for the copper-transporting ATPase in the cell organelles. Dysfunction of many copper-dependent enzymes results in low concentrations of copper in some tissues and accumulation of copper in others. We report on a boy that at the age of 2 months presented with encephalopath...

Correction of cerebrospinal fluid copper in Menkes kinky hair disease.

A patient with Menkes Kinky Hair disease was treated with infusions of copper-histidine which resulted in normal copper values in the cerebrospinal fluid. This tends to confirm the in vitro data that copper is transported into the central nervous system complexed with histidine or other similar ligands.

Is kinky-hair disease a misnomer for Menkes syndrome?

Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease

Menkes kinky hair disease is a rare X-linked recessive disease nearly exclusively affecting males who present at 2-3 months of age due to abnormal functioning of copper-dependent enzymes due to deficiency of copper. Here, we describe a completely worked-up case of a 4-month-old male infant with very typical history and radiological features confirmed by biochemical and trichoanalysis. The initi...

Menkes' Kinky Hair disease: new considerations.

Kinky hair disease (KHD) was first described by Menkes et al.(1). Ten years later Danks et al. suggested that the primary defect is in copper transport leading to copper deficiency(2). It is a Xlinked recessive disorder. The gene for KHD is about 200 kb in size and is located on the long arm of X chromosome (Xql3.3). The cDNA has been recently sequenced and is known to code for a protein of 150...