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Adenylosuccinate lyase deficiency is responsible for a range of symptoms that involve psychomotor retardation, often accompanied by epileptic seizures, and autistic features. Two common theories were proposed to account for these effects, the first is that they result from decreased concentrations of purine nucleotides needed for purine ...
Mutated adenylosuccinate lyase (ASL) causes clinical disease in patients that is referred to as adenylosuccinate lyase deficiency. This condition is rare, and it presents with varying degrees of psychomotor retardation , autism , muscle wasting , and epilepsy .
Basal-cell carcinoma (BCC), also known as basal-cell cancer, basalioma [7] or rodent ulcer, [8] is the most common type of skin cancer. [2] It often appears as a painless raised area of skin, which may be shiny with small blood vessels running over it . [ 1 ]
First described in 1960 by Gorlin and Goltz, [5] NBCCS is an autosomal dominant condition that can cause unusual facial appearances and a predisposition for basal-cell carcinoma, a type of skin cancer which rarely spreads to other parts of the body. The prevalence is reported to be 1 case per 56,000–164,000 population.
Thrombocytopenia – a deficiency of platelets; Pancytopenia – when all three types of blood cells; red blood cells, white blood cells, and platelets, are all deficient. This is a life-threatening disorder that is a characteristic of aplastic anemia. [3] There are also two general causes of cytopenia: autoimmune and refractory.
Argininosuccinic aciduria is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as "ASA") in the blood and urine. Some patients may also have an elevation of ammonia, a toxic chemical, which can affect the nervous system.
Common variable immunodeficiency; Specialty: Immunology : Symptoms: Hypogammaglobulinemia, recurrent opportunistic infections, fatigue: Complications: Autoimmune manifestations; increased risk of malignancies such as gastric carcinomas, non-Hodgkin lymphoma; lymphocytic infiltration of tissues; nodular regenerative hyperplasia; enteropathy
The root cause of basophilia can be determined through a bone marrow biopsy, genetic testing to look for genetic mutations, or ultrasound to determine enlargement of the spleen. A bone marrow aspirate may be used to confirm an increase in basophils or significantly high numbers of precursors to the granulocytes. Since basophilia is present in a ...