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ALA-D Deficiency Porphyria
Aminolevulinic acid dehydratase deficiency porphyria (also known as "Doss porphyria", "plumboporphyria", or "ADP") is an extremely rare Dominance (genetics), autosomal recessive metabolic disorder that results from inappropriately low levels of the enzyme delta-aminolevulinic acid dehydratase (Delta-aminolevulinic acid dehydratase, ALAD), which is required for normal heme synthesis. This deficiency results in the accumulation of a toxic metabolic precursor in the heme synthesis pathway called aminolevulinic acid Aminolevulinic acid, (ALA). Lead poisoning can also disrupt ALAD and result in elevated ALA causing the same symptoms. Heme is a component of hemoglobin which carries oxygen in red blood cells. ALA dehydratase deficiency is a rare cause of hepatic porphyria, meaning that excess porphyrins originate from the liver rather than the bone marrow as in erythropoietic porphyrias. Signs and symptoms The clinical presentation of ADP includes a wide range of neurologic and gastroin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heredity
Heredity, also called inheritance or biological inheritance, is the passing on of traits from parents to their offspring; either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents. Through heredity, variations between individuals can accumulate and cause species to evolve by natural selection. The study of heredity in biology is genetics. Overview In humans, eye color is an example of an inherited characteristic: an individual might inherit the "brown-eye trait" from one of the parents. Inherited traits are controlled by genes and the complete set of genes within an organism's genome is called its genotype. The complete set of observable traits of the structure and behavior of an organism is called its phenotype. These traits arise from the interaction of its genotype with the environment. As a result, many aspects of an organism's phenotype are not inherited. For example, suntanned ski ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
