Related MeSH Hierarchy (10)
Diseases [C] » Nervous System Diseases [C10] » Central Nervous System Diseases » Brain Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » Menkes Kinky Hair Syndrome
Diseases [C] » Nervous System Diseases [C10] » Neurologic Manifestations » Neurobehavioral Manifestations » Intellectual Disability » Mental Retardation, X-Linked » Menkes Kinky Hair Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Genetic Diseases, X-Linked » Mental Retardation, X-Linked » Menkes Kinky Hair Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Heredodegenerative Disorders, Nervous System » Mental Retardation, X-Linked » Menkes Kinky Hair Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Menkes Kinky Hair Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Metal Metabolism, Inborn Errors » Menkes Kinky Hair Syndrome
Diseases [C] » Skin and Connective Tissue Diseases [C17] » Skin Diseases » Hair Diseases » Menkes Kinky Hair Syndrome
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » Menkes Kinky Hair Syndrome
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Menkes Kinky Hair Syndrome
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Metal Metabolism, Inborn Errors » Menkes Kinky Hair Syndrome
Description
An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125) MeSH
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Phase 3 Indicated Drugs (2)
Organization Involved with Phase 3 Indications (2)
Organization Involved with Other Experimental Indications (1)
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UMLS Data
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