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[Inherited neurological disease--relationship between an essential trace elements and Wilson/Menkes disease].
Nihon Rinsho. 1996 Jan; 54(1):117-22.NR

Abstract

Because copper is an integral component of various enzymes in every cells, it has been known to be essential for cell activities. Copper is also a very toxic ion, so a specific series of copper transport process must exist to carry copper to the sites where it is required, and to ensure copper homeostasis without allowing toxic accumulation. Wilson disease and Menkes disease are the inherited diseases caused by genetic defects in copper metabolism. Wilson disease is related to the toxic effects of copper accumulation in liver, which leads to progressive liver damage and subsequent overflow to brain causing a loss of coordination and involuntary movement. Menkes disease is caused by the deficiency of serum copper and of copper-dependent enzymes, in various tissues except liver which characterized by neurologic degeneration and mental retardation, connective tissue and vascular defects, characteristic brittle and depigmented hair, and death in early childhood.

Authors+Show Affiliations

Department of Second Pediatrics, Toho University School of Medicine.No affiliation info available

Pub Type(s)

English Abstract
Journal Article
Review

Language

jpn

PubMed ID

8587176

Citation

Ozawa, M, and T Aoki. "[Inherited Neurological Disease--relationship Between an Essential Trace Elements and Wilson/Menkes Disease]." Nihon Rinsho. Japanese Journal of Clinical Medicine, vol. 54, no. 1, 1996, pp. 117-22.
Ozawa M, Aoki T. [Inherited neurological disease--relationship between an essential trace elements and Wilson/Menkes disease]. Nippon Rinsho. 1996;54(1):117-22.
Ozawa, M., & Aoki, T. (1996). [Inherited neurological disease--relationship between an essential trace elements and Wilson/Menkes disease]. Nihon Rinsho. Japanese Journal of Clinical Medicine, 54(1), 117-22.
Ozawa M, Aoki T. [Inherited Neurological Disease--relationship Between an Essential Trace Elements and Wilson/Menkes Disease]. Nippon Rinsho. 1996;54(1):117-22. PubMed PMID: 8587176.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Inherited neurological disease--relationship between an essential trace elements and Wilson/Menkes disease]. AU - Ozawa,M, AU - Aoki,T, PY - 1996/1/1/pubmed PY - 1996/1/1/medline PY - 1996/1/1/entrez SP - 117 EP - 22 JF - Nihon rinsho. Japanese journal of clinical medicine JO - Nippon Rinsho VL - 54 IS - 1 N2 - Because copper is an integral component of various enzymes in every cells, it has been known to be essential for cell activities. Copper is also a very toxic ion, so a specific series of copper transport process must exist to carry copper to the sites where it is required, and to ensure copper homeostasis without allowing toxic accumulation. Wilson disease and Menkes disease are the inherited diseases caused by genetic defects in copper metabolism. Wilson disease is related to the toxic effects of copper accumulation in liver, which leads to progressive liver damage and subsequent overflow to brain causing a loss of coordination and involuntary movement. Menkes disease is caused by the deficiency of serum copper and of copper-dependent enzymes, in various tissues except liver which characterized by neurologic degeneration and mental retardation, connective tissue and vascular defects, characteristic brittle and depigmented hair, and death in early childhood. SN - 0047-1852 UR - https://www.unboundmedicine.com/medline/citation/8587176/[Inherited_neurological_disease__relationship_between_an_essential_trace_elements_and_Wilson/Menkes_disease]_ L2 - http://www.diseaseinfosearch.org/result/7506 DB - PRIME DP - Unbound Medicine ER -
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