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 ?
Menkes Disease Presenting with Epilepsia Partialis Continua.
Menkes disease - An important cause of early onset refractory seizures.
Menkes disease (MD)(OMIM: 309400) is also known as kinky hair disease, trichopoliodystrophy, and steely hair.1 It is a rare disorder with frequency being estimated to be 1 in 114,000-250,000 live births.2 Menkes disease is diagnosed on the basis of history, physical findings and lab investigations including copper and ceruloplasmin level as well as hair shaft microscopy.3 Mutation analysis leads to the definitive diagnosis.
A diagnosis of Menkes disease was made on the basis of this analysis.
Molecular genetics and pathophysiology of Menkes disease. Pediatr Int 1999; 41:430-5.
Typical of Menkes disease, both patients were diagnosed at five months of age having presented with abnormal developmental progress.
Menkes disease is a rare X-linked (Xq13) fatal disorder affecting one out of 200,000 newborn infants, resulting from a mutation in the gene encoding ATP7A.
His discovery of the treatment of Menkes disease, a fatal neurodegenerative disease of genetic origin, is saving children around the world.
Biochemical characterization and intracellular localization of the Menkes disease protein.
Food and Drug Administration has granted Fast Track Designation to Cyprium Therapeutics' Copper Histidinate, also referred to as CUTX-101, for patients diagnosed with classic Menkes disease who have not demonstrated significant clinical progression.
Lucy, 33, a teacher in Cardiff, said they decided to start fundraising after her mother-inlaw's friend's son Oscar Evans died last May after suffering Menkes disease, which affects one in 250,000 babies.
Ahead of the final part, to be screened tomorrow at 9.30pm, Ruth and Bryn spoke lovingly about Elis, who suffered from Menkes disease, and praised the hospice's work.