Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease; Copper transport disease; Trichopoliodystrophy; X-linked copper deficiency DefinitionMenkes disease is a genetic disorder in which the body has a problem absorbing and distributing copper to bodily organs. The disease affects development, both mental and physical. CausesMenkes disease is caused by a defect in the ATP7A gene. The defect makes it hard for the body to properly distribute (transport) copper throughout the body. As a result, the brain and other parts of the body do not get enough copper, while it builds up in the small intestine and kidneys. A low copper level can affect the structure of bone, skin, hair, and blood vessels, and interfere with nerve function. Menkes syndrome is usually inherited, which means it runs in families. The gene is on the X-chromosome, so if a mother carries the defective gene, each of her sons has a 50% (1 in 2) chance of developing the disease, and 50% of her daughters will be a carrier of the disease. This kind of gene inheritance is called X-linked recessive. In some people, the disease is not inherited from their parents. Instead, the gene defect occurs at the time the baby is conceived. SymptomsCommon symptoms of Menkes disease in infants are:
Exams and TestsOnce Menkes disease is suspected, tests that may be done include:
TreatmentTreatment usually only helps when started very early in the course of the disease. Injections of copper into a vein or under the skin have been used with mixed results and depend on whether the ATP7A gene still has some activity. Support GroupsMore information and support for people with Menkes syndrome and their families can be found at:
Outlook (Prognosis)Most children with this disease die within the first few years of life. When to Contact a Medical ProfessionalTalk to your provider if you have a family history of Menkes syndrome and you plan to have children. A baby with this condition will often show symptoms early in infancy. PreventionSee a genetic counselor if you want to have children and you have a family history of Menkes syndrome. Maternal relatives (relatives on the mother's side of the family) of a boy with this syndrome could be seen by a geneticist to find out if they are carriers. ReferencesKwon JM. Neurodegenerative disorders of childhood. In: Kliegman RM, St. Geme JW, Blum NJ, Shah, SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 617. Turnpenny PD, Ellard S, Cleaver R. Inborn errors of metabolism. In: Turnpenny PD, Ellard S, Cleaver R, eds. Emery's Elements of Medical Genetics and Genomics. 16th ed. Philadelphia, PA: Elsevier; 2022:chap 18. | |
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Review Date: 4/24/2023 Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. No warranty of any kind, either expressed or implied, is made as to the accuracy, reliability, timeliness, or correctness of any translations made by a third-party service of the information provided herein into any other language. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited. | |
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Hypotonia
