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Dictionary » Copper transport disease
 

Copper transport disease

Introduction: Copper transport disease

Description of Copper transport disease

Copper transport disease (medical condition): Genetic disease of copper deficiency....more »

See also:

Menkes Disease:
  »Introduction: Menkes Disease
  »Symptoms of Menkes Disease
  »Treatments for Menkes Disease

Copper transport disease: 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)
Source: Diseases Database

Copper transport disease: Related Topics

These medical condition or symptom topics may be relevant to medical information for Copper transport disease:

Copper transport disease: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Copper transport disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Copper transport disease, or a subtype of Copper transport disease, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Copper transport disease as a Disease

Copper transport disease: Another name for Menkes Disease (or close medical condition association).
  »Introduction: Menkes Disease
  »Symptoms of Menkes Disease
  »Treatments for Menkes Disease

Copper transport disease: Related Diseases

Copper transport disease: Copper transport disease is listed as a type of (or associated with) the following medical conditions in our database:

Symptoms of Copper transport disease (Menkes Disease)

Some of the symptoms of Copper transport disease incude:

Treatments for Copper transport disease (Menkes Disease)

Treatments for Copper transport disease (Menkes Disease) include:

Treatment of Copper transport disease: For more treatment information about Copper transport disease, see treatment of Menkes Disease (Copper transport disease)

Copper transport disease: Article Excerpts about Menkes Disease

Genes and Disease by the National Center for Biotechnology (Excerpt)

Menkes syndrome is an inborn error of metabolism that markedly decreases the cells' ability to absorb copper. (Source: Genes and Disease by the National Center for Biotechnology)

NINDS Menkes Disease Information Page: NINDS (Excerpt)

Menkes disease is a genetic neurodegenerative disorder of copper metabolism. It is... (Source: excerpt from NINDS Menkes Disease Information Page: NINDS)

Copper transport disease: Related Disease Topics

These medical disease topics may be related to Copper transport disease:

Terms associated with Copper transport disease:

Terms Similar to Copper transport disease:

Source: Diseases Database

Source - NIH

External links related to: Copper transport disease

Source: Diseases Database

Interesting Medical Articles:

Medical dictionaries:

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