Menkes’ Disease: Report of a Case and Determination of Eumelanin and Pheomelanin in Hypopigmented Hair

Abstract

We report a male infant with Menkes’ disease who showed, at the age of 3 months, slow growth, hair abnormalities such as pili torti and white hair, and low levels of serum copper and ceruloplasmin. The exceptionally bright portions of his hair contained eumelanin and pheomelanin at levels only half those of normal Japanese controls. After subcutaneous administration of copper-histidinate for 2 months, his scalp hair changed to dark brown.

A Drosophila model of Menkes disease reveals a role for DmATP7 in copper absorption and neurodevelopment

“…In Menkes disease, mutations in the ATP7A gene are characterized by hypopigmentation, kinky hair, neurological deterioration and early death in childhood owing to inhibition of copper absorption in the intestine, which results in a systemic copper deficiency (Lutsenko et al, 2007;Tomita et al, 1992). Menkes disease patients die within their first few years of life, whereas OHS patients can remain alive until adulthood (Kodama et al, 1999).…”

“…As a consequence, loss-of-function mutants of DmATP7 generate larvae with phenotypes that are similar to both Wilson's and Menkes diseases (Norgate et al, 2006). For instance, DmATP7 -/Y larvae have hypopigmented mouth hooks and are short-lived (similar to Menkes disease symptoms), although they are extremely lethargic (akin to the movement disorder in Wilson's disease) (Cox, 1999;Norgate et al, 2006;Tomita et al, 1992). Our results demonstrate that conditional silencing of DmATP7 specifically in the gut recapitulates major features of Menkes disease, such as the reduced copper pool, severe neurodevelopmental defects and early mortality (Figs 2-4).…”

“…Menkes disease patients display severe developmental, neurological and connective tissue abnormalities along with various other symptoms that are associated with a decreased function of copper-dependent enzymes (Lutsenko et al, 2007;Tomita et al, 1992). Patients with OHS, a milder form of Menkes disease, also exhibit connective tissue impairments but are spared of severe neurological abnormalities, presumably owing to residual expression of functional ATP7A (Das et al, 1995;Mercer, 1998;Møller et al, 2000;Tang et al, 2006;Tsukahara et al, 1994).…”

Menkes' kinky hair disease: Report of a case and distribution of sulfhydryl residues and disulfide bonds in kinky hair

“…It is also known that skin sulfhydryi oxidase, a S-S cross-linking enzyme, catalyzes the formation of the disulfide bond from sulfhydryl groups during the keratinization process in skin [6,8]. It has been reported that activated skin sulfhydryl oxidase has 2 atoms of copper in one molecule [9].…”

Focal Scalp Hair Heterochromia in an Infant

“…7 Tomita et al reported a case of white scalp hair in an infant with Menkes disease who had low levels of eumelanin and pheomelanin; the discolouration resolved after the administration of copper histidinate. 8 A solitary case of nummular headache associated with focal hair heterochromia in a child has also been reported. 9 Three different types of hair heterochromia have been previously described: patchy, segmental and diffuse.…”