Biomaterial Database

Copper metabolism in Menkes disease. 1979

N G Beratis, and P Price, and G U LaBadie, and K Hirschhorn

UI	MeSH Term	Description	Entries
D007706	Menkes Kinky Hair Syndrome	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)	Hypocupremia, Congenital,Kinky Hair Syndrome,Menkes Syndrome,Steely Hair Syndrome,Congenital Hypocupremia,Copper Transport Disease,Kinky Hair Disease,Menkea Syndrome,Menkes Disease,Menkes' Disease,Steely Hair Disease,X-Linked Copper Deficiency,Congenital Hypocupremias,Copper Deficiencies, X-Linked,Copper Deficiency, X-Linked,Copper Transport Diseases,Deficiencies, X-Linked Copper,Deficiency, X-Linked Copper,Disease, Copper Transport,Disease, Steely Hair,Diseases, Copper Transport,Diseases, Kinky Hair,Diseases, Menkes',Diseases, Steely Hair,Hair Diseases, Kinky,Hair Diseases, Steely,Hypocupremias, Congenital,Kinky Hair Diseases,Menkea Syndromes,Menkes' Diseases,Steely Hair Diseases,Steely Hair Syndromes,Syndrome, Menkea,Syndrome, Steely Hair,Syndromes, Menkea,Syndromes, Steely Hair,Transport Disease, Copper,Transport Diseases, Copper,X Linked Copper Deficiency,X-Linked Copper Deficiencies
D008668	Metallothionein	A low-molecular-weight (approx. 10 kD) protein occurring in the cytoplasm of kidney cortex and liver. It is rich in cysteinyl residues and contains no aromatic amino acids. Metallothionein shows high affinity for bivalent heavy metals.	Isometallothionein,Metallothionein A,Metallothionein B,Metallothionein I,Metallothionein II,Metallothionein IIA
D001928	Brain Diseases, Metabolic	Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function.	Central Nervous System Metabolic Disorders,Encephalopathies, Metabolic,Metabolic Disorders, Brain,Acquired Metabolic Diseases, Brain,Acquired Metabolic Diseases, Nervous System,Acquired Metabolic Encephalopathies,Brain Diseases, Metabolic, Acquired,Brain Disorders, Metabolic,Brain Disorders, Metabolic, Acquired,Brain Syndrome, Metabolic,Brain Syndrome, Metabolic, Acquired,CNS Metabolic Disorders,CNS Metabolic Disorders, Acquired,Encephalopathy, Metabolic, Acquired,Metabolic Brain Diseases,Metabolic Brain Diseases, Acquired,Metabolic Brain Syndrome,Metabolic Brain Syndrome, Acquired,Metabolic Brain Syndromes,Metabolic Brain Syndromes, Acquired,Metabolic Diseases, Acquired, Nervous System,Metabolic Disorder, Central Nervous System, Acquired,Metabolic Disorders, CNS,Metabolic Disorders, CNS, Acquired,Metabolic Disorders, Central Nervous System,Metabolic Encephalopathies,Nervous System Acquired Metabolic Diseases,Acquired Metabolic Encephalopathy,Brain Disease, Metabolic,Brain Disorder, Metabolic,Brain Metabolic Disorder,Brain Metabolic Disorders,CNS Metabolic Disorder,Encephalopathies, Acquired Metabolic,Encephalopathy, Acquired Metabolic,Encephalopathy, Metabolic,Metabolic Brain Disease,Metabolic Brain Disorder,Metabolic Brain Disorders,Metabolic Disorder, Brain,Metabolic Disorder, CNS,Metabolic Encephalopathies, Acquired,Metabolic Encephalopathy,Metabolic Encephalopathy, Acquired
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D003300	Copper	A heavy metal trace element with the atomic symbol Cu, atomic number 29, and atomic weight 63.55.	Copper-63,Copper 63
D005347	Fibroblasts	Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.	Fibroblast
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man