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Menkes syndrome - Genetics Home Reference - NIH
Menkes syndrome is inherited in an X-linked recessive pattern.The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes.In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition.In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene ...
Menkes disease - Wikipedia
Menkes disease (MNK), also known as Menkes syndrome, is an X-linked recessive disorder caused by mutations in genes coding for the copper-transport protein ATP7A, leading to copper deficiency. Characteristic findings include kinky hair, growth failure, and nervous system deterioration.Like all X-linked recessive conditions, Menkes disease is more common in males than in females.
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Menkes | definition of Menkes by Medical dictionary
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Menkes disease | definition of Menkes disease by Medical ...
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 ...
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Dr. Alan Menkes, Internist in Murrieta, CA | US News Doctors
Dr. Alan Menkes is an internist in Murrieta, California. He received his medical degree from Philadelphia College of Osteopathic Medicine and has been in practice for more than 20 years.
Menkes Disease - NORD (National Organization for Rare ...
NORD gratefully acknowledges John H. Menkes, MD, Professor Emeritus of Neurology and Pediatrics, UCLA School of Medicine, and Director Emeritus of Pediatric Neurology, Cedars-Sinai Medical Center, for assistance in the preparation of this report. Menkes disease is a genetic disorder of copper ...
Menkes disease | Genetic and Rare Diseases Information ...
Menkes disease is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system. Some additional signs and symptoms may include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. ...
Menkes Disease Information Page | National Institute of ...
Menkes disease is caused by a defective gene named ATPTA 1 that regulates the metabolism of copper in the body. The disease primarily affects male infants. Copper accumulates at abnormally low levels in the liver and brain, but at higher than normal levels in the kidney and intestinal lining.