Menkes disease


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Menkes disease

(mĕng′kəs)
n.
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
References in periodicals archive ?
Patients with Menkes disease frequently have multiple issues which complicate anaesthetic management (2,3).
In contrast, in conditions like Menkes disease that results from copper deficiency, an approach to supplement copper complexed with histidine or albumin are being tested (79).
Biochemical characterization and intracellular localization of the Menkes disease protein.
Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease.
Elis, who is 18 months old, was born with Menkes disease, which means his body can't produce copper, and this affects his growth as well as the development of important organs in his body.
The event was in aid of local lad Vinnie Whitehead, who requires sensory lighting as he suffers from Menkes Disease.
Oscar, who was born with the rare condition Menkes Disease which affects one in 250,000 babies, was just two and a half when he died on June 1.
The last three patients had Menkes disease and a secondary RC disorder attributable to impairment of copper-dependent cytochrome c oxidase.
The reason for this is that all of the money raised will go to help local lad Vinnie Whitehead, who requires sensory lighting as he suffers from Menkes Disease.
Andrew, who told the Echo last week about how he and wife Jennifer care for son Oscar who has the rare, life-limiting condition Menkes disease, was one of 420 cyclists on the Taff Trail Challenge.
Various agents, such as tetrathiomolybdate and n-penicillamine, are discussed for the removal of excess copper from Wilson disease patients; however, there is no mention of the use of copper-histidine to treat copper deficiency in Menkes disease patients.