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Aceruloplasminemia has an autosomal recessive pattern of inheritance.. Aceruloplasminemia is caused by a mutation (a five-base pair insertion in exon 7 [3]) in the CP gene, which provides instructions for making a protein called ceruloplasmin, a protein involved in iron transport and processing.
Ceruloplasmin (or caeruloplasmin) is a ferroxidase enzyme that in humans is encoded by the CP gene. [ 5 ] [ 6 ] [ 7 ] Ceruloplasmin is the major copper -carrying protein in the blood, and in addition plays a role in iron metabolism .
Low ceruloplasmin is also found in Menkes disease and aceruloplasminemia, which are related to, but much rarer than Wilson's disease. [5] [14] The combination of neurological symptoms, eye signs, and a low ceruloplasmin level is considered sufficient for the diagnosis of Wilson's disease. In many cases, however, further tests are needed.
Menkes syndrome can be diagnosed by blood tests of the copper and ceruloplasmin levels, skin biopsy, and optical microscopic examination of the hair to view characteristic Menkes abnormalities. X-rays of the skull and skeleton are conducted to look for abnormalities in bone formation. [ 7 ]
Ceruloplasmin is an acute phase protein synthesized in the liver. It is the carrier of the copper ion. Its level is increased in infections, rheumatoid arthritis, pregnancy, non-Wilson liver disease and obstructive jaundice. In Wilson disease, the ceruloplasmin level is depressed which lead to copper accumulation in body tissues. [6]
Hyperthyroidism has unique effects in children on growth and pubertal development, e.g. causing epiphyseal maturation. In growing children, accelerated bone growth from hyperthyroidism can increase osteogenesis in the short term, but generally results in short-stature adults compared with the predicted heights. Pubertal development tends to be ...
Anemia is a deficiency in the size or number of red blood cells or in the amount of hemoglobin they contain. [1] This deficiency limits the exchange of O 2 and CO 2 between the blood and the tissue cells. [1] Globally, young children, women, and older adults are at the highest risk of developing anemia. [1]
Men often learn they have Sertoli cell-only syndrome between the ages of 20 and 40 when they are checked for infertility and found to produce no sperm. Other signs and symptoms are uncommon, yet in some cases, an underlying cause of SCO syndrome, such as Klinefelter syndrome , may produce other symptoms.