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Copper deficiency in the brain results in neurological problems that generally appear in adulthood and worsen over time. [3] Aceruloplasminemia has been seen worldwide, but its overall prevalence is unknown. Studies in Japan have estimated that approximately 1 in 2 million adults in this population are affected. [4]
The QoL-AGHDA was published in 1999 and was funded by Pharmacia & Upjohn AB, Sweden. [4] The research company that developed the QoL-AGHDA was Galen Research. [5] The measure was originally created for use in UK English, Swedish, Italian, German and Spanish, but later on it was also adapted for the United States, Belgium, the Netherlands, Brazil and Denmark.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Carnitine deficiency is found in about 50% of cases. [18] Over 90% of those diagnosed with 3-Methylcrotonyl-CoA carboxylase deficiency by newborn screening remain asymptomatic. The medical abnormalities that present in the few who do show symptoms are not always clearly related to 3-Methylcrotonyl-CoA carboxylase deficiency. [5]
Iron-deficiency anemia (or iron deficiency anaemia) is a common anemia that occurs when iron loss (often from intestinal bleeding or menses) occurs, and/or the dietary intake or absorption of iron is insufficient. In such a state, hemoglobin, which contains iron, cannot be formed. [5] Plummer–Vinson syndrome: D50.1: 10134
Haemophilia B, also spelled hemophilia B, is a blood clotting disorder causing easy bruising and bleeding due to an inherited mutation of the gene for factor IX, and resulting in a deficiency of factor IX. It is less common than factor VIII deficiency (haemophilia A). [3] Haemophilia B was first recognized as a distinct disease entity in 1952. [4]
An analysis of data from more than 8,000 adults in the U.S. revealed that 14% had low iron blood levels, a condition known as absolute iron deficiency, while 15% had the right iron levels but ...
Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood. [1]Two forms of citrullinemia have been described, both having different signs and symptoms, and are caused by mutations in different genes.