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 ?
Infants with classic Menkes Disease typically remain healthy until 2 to 3 months of age and then recognition of seizures and hypotonia and failure to thrive begin and they usually die by the age of 3 years.
Recently the mother was confirmed as a carrier of this deletion, which enables the family to exclude Menkes disease prenatally in future pregnancies.
Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients.
Patients with Menkes disease frequently have multiple issues which complicate anaesthetic management (2,3).
These include, (i) Albinism, wherein an impairment of an enzyme tyrosinase which is a critical intermediate in melanin biosynthesis, (ii) Over gene dose effect of Cu-Zn SOD noticed in Down Syndrome (trisomy 21) due to the presence of this gene on the chromosome 21, (iii) X-linked Cutis laxa (or an analogous disorder in mouse termed blotchy mouse), which are characterized by defects in cross-linking of collagen due to decreased lysyl oxidase activity, (iv) Mottled mice, an X-linked disorder analogous to Menkes disease wherein Cu metabolism is affected.
Biochemical characterization and intracellular localization of the Menkes disease protein.
Menkes disease stops the body producing copper and affects growth as well as the development of important organs in the body.
Ceruloplasmin deficiency also has been observed in other pathological conditions, including Menkes disease, protein calorie malnutrition, nephrotic syndrome, protein-losing enteropathy, acquired copper deficiency, and hereditary aceruloplasminemia (31).
A test developed by NIH scientists could greatly extend the survival of infants with Menkes disease, a rare, otherwise fatal disorder of copper metabolism.
We need to raise physician awareness about the disease," explains Bibudhendra Sarkar, FCIC, head of the department of biochemistry research and lead researcher on the study "It is critical that Menkes disease be spotted early, for we know from our results that copper-histidine must be given within the first month of life in order for it to prevent the neurological deterioration.
Andrew Evans and Jennifer O'Brien with their son Oscar who had Menkes disease.