Menkes Syndrome
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What is Menkes syndrome?Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse and coarse hair, growth failure, and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features, seizures, mental retardation, and developmental delay. Onset of Menkes syndrome typically begins during infancy. In rare cases, symptoms begin later in childhood. Occipital horn syndrome (sometimes called X-linked cutis laxa), is a less severe form of Menkes syndrome that begins in early to middle childhood. It is characterized by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose skin and joints. How common is Menkes syndrome?The incidence of Menkes syndrome and occipital horn syndrome is estimated to be 1 in 100,000 individuals. What genes are related to Menkes syndrome?Mutations in the ATP7A gene cause Menkes syndrome. A mutation in the ATP7A gene results in poor distribution of copper to the body's cells. Copper accumulates in some tissues, such as the small intestine and kidneys, while the brain and other tissues have unusually low levels. The decreased supply of copper can reduce the activity of numerous copper-containing enzymes that are necessary for the structure and function of bone, skin, hair, blood vessels, and the nervous system. How do people inherit Menkes syndrome?This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, 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 must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. About one-third of Menkes cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Source: National Institutes of Health
New data from P.S. Bindu et al illuminate research in menkes kinky hair syndrome
2007 SEP 4 -- According to recent research from Bangalore, India, "The authors report an 11-month-old boy with Menkes kinky hair disease who presented with global delay in acquiring milestones and repeated myoclonic jerks. He had scanty, hypopigmented scalp hairs with steely wool-like texture and intervening zones of alopecia." "There was low serum ceruloplasmin (5 mg/dL) and copper (24.2 mu g/dL). Neuroimaging of the brain revealed marked cerebral atrophy and significant delayed myelination. Magnetic resonance angiography showed tortuous cerebral and neck blood vessels," wrote P.S. Bindu and colleagues. The researchers concluded: "There was poor therapeutic response to symptomatic treatment." Bindu and colleagues published their study in the Journal of Child Neurology (Menkes syndrome presenting as myoclonic seizures: Neuroimaging and EEG observations. Journal of Child Neurology, 2007;22(4):452-455). For additional information, contact S. Sinha, NIMHANS, Dept. of Neurology, Bangalore 560029, Karnataka, India. Publisher contact information for the Journal of Child Neurology is: Sage Publications Inc., 2455 Teller Rd., Thousand Oaks, CA 91320, USA. Keywords: India, Bangalore, Child Neurology, Hair Disease, Menkes Disease, Menkes Kinky Hair Syndrome, Neuroimaging, Neurology, Seizures. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.
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