menkes syndrome…

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hypotonia, steely hair disease, menkes kinky hair syndrome, kinky hair disease, menkes syndrome, inherited disorder that results in problems in multiple parts, due to cells not having enough copper, menkes syndrome is inherited, an x-linked recessive disorder, disorder is related to deficient levels of copper, in the cells, symptoms include progressive mental deterioration, kinked, twisted, brittle hair, skeletal changes, death, occurs, in the first few years of life, 1 in 300,000 individuals, pudgy, rosy cheeks, lack of muscle tone, floppiness (hypotonia, irritability, seizures, brittle, kinky hair, feeding difficulties, low body temperature, bone spurs, a history of menkes syndrome, male relative, signs include slow growth, in the womb, abnormally low body temperature, bleeding, in the brain, abnormal appearance, the hair under the microscope, males, have all of hairs show abnormal structure but females who, carriers of this trait, half the hairs to be abnormal, following tests, help diagnose the condition, x-ray, the skeleton, x-ray, the skull, abnormal bone appearance, wormian bones, metaphyseal widening, serum copper level low, copper level in cultured skin cells, fibroblasts, elevated up to 5 times normal level, serum ceruloplasmin level low, microscope examination, the hair, breaks at regular intervals, genetic testing, mutation, in the atp7a gene, injection of copper has been used, mixed results, present therapy consists of, copper acetate administered into a vein, intravenously, subcutaneous, injected under the skin, copper histidine, corporation, menkes disease, 219-436-0137, menkes, serious disorder, early death common, seizures, abnormally light pigmentation, the skin, hair, death, occurs, in the first few years of life, consult, family history of menkes syndrome, plan to have children, a baby, symptoms early in infancy, genetic counseling, prospective parents, a family history of menkes syndrome, evaluation by a geneticist, maternal relatives of an affected boy, genetic risks, carrier status.