Name: Citrullinemia (en Inglés)
SKU: 67053953
Price: 595822.00 COP
Availability: InStock
ISBN: 9786130852504

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9786130852504

Citrullinemia (en Inglés)

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Reseña del libro "Citrullinemia (en Inglés)"

High Quality Content by WIKIPEDIA articles! Citrullinemia, also called citrullinuria, is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood. Two forms of citrullinemia have been described, both having different signs and symptoms, and are caused by mutations in different genes. Citrullinemia belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of chemical reactions that takes place in the liver. These reactions process excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. Type I citrullinemia usually becomes evident in the first few days of life. Affected infants typically appear normal at birth, but as ammonia builds up in the body they develop a lack of energy, poor feeding, vomiting, seizures, and loss of consciousness. These medical problems can be life-threatening in many cases.