Menkes disease

(redirected from kinky hair syndrome)

Menkes disease

(mĕng′kəs)

A sex-linked metabolic defect in copper metabolism, characterized by sparse, brittle, twisted hair, failure to thrive, lack of muscle tone, seizures, and progressive deterioration of the brain.

Menkes disease

An X-linked recessive condition (OMIM:309400) linked to decreased serum copper.

Clinical findings
Progressive mental deterioration, kinked or twisted brittle hair, skeletal defects, death in infancy.

Molecular pathology
Defects in ATP7A, which encodes a protein that transports copper across membranes, causes Menkes disease.

Menkes disease

(men'kaz)

Metabolic defect resulting from a mutation on the X chromosome that alters the transport of copper within the human body, resulting in neurological degeneration, connective tissue disorders, and premature death.

See: kinky hair disease

Menkes,

John H., U.S. pediatric neurologist, 1928–.

Menkes disease - Synonym(s): kinky-hair syndrome

Menkes syndrome - Synonym(s): kinky-hair syndrome

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References in periodicals archive ?

A rare case of Menkes kinky hair syndrome with osseous involvement.

Menkes disease - A rare case report

Determination of apoceruloplasmin by radioimmunoassay in nutritional copper deficiency, Menkes' kinky hair syndrome, Wilson's disease, and umbilical cord blood.

D-penicillamine-induced Elastosis Perforans Serpiginosa

Suerers may also have strikingly peculiar hair, which is kinky, colourless or steelcoloured, and breaks easily giving the disease it's other names; kinky hair disease and kinky hair syndrome. Oscar's hair was not kinky but a strand was used to detect the disease.

'I HAD ONE L CUDDLE W LE IT MUMMY AND Y I FELL F ASELL LEE IN HER ARMS' LAST TH LEEP R; Little Oscar Evans counfounded doctors with his will to live. Yet he died this month aged just two-and-a-half years old. His mum Jennifer O'Brien, 20, of Cardiff, has written this heart-rending piece recounting her son's life and his battle with a rare genetic disorder from his perspective

| Sufferers may also have strikingly peculiar hair, which is kinky, colourless or steel-coloured, and breaks easily, giving the disease its other names - kinky hair disease and kinky hair syndrome.

'It's not just like being a mum looking after Oscar, but I wouldn't change him for the world' Being parents to a baby with a limited life has changed us for the better, Andrew Evans and Jennifer O'Brien tell Abbie Wightwick

Kinky hair syndrome: serial study of radiologic findings with emphasis on the similarity to the battered child syndrome.

From the coalface of clinical paediatric neurology: Menkes disease--a lesson not to be forgotten

This paper will focus on two diseases associated with the essential trace element copper: Wilson's Disease (WD) and Menkes' Kinky Hair Syndrome (MKHS).

Copper deficiency has been documented in association with malnourished infants, premature infants, long term intravenous nutritional solutions, malabsorption syndromes, and in Menkes' Kinky Hair Syndrome (Burtis, Ashwood, & Bruns, 2006).

Menkes' Kinky Hair Syndrome (MKHS) is a sex-linked (X-linked) recessive disorder defined as a progressive, genetic, neurodegenerative disorder of copper metabolism.