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Aminolevulinic acid dehydratase deficiency porphyria

Index Aminolevulinic acid dehydratase deficiency porphyria

Aminolevulinic acid dehydratase deficiency porphyria (also known as "Doss porphyria", and "plumboporphyria") is a neuropsychiatric condition, disease can present during early childhood (as well as in adulthood) with acute neurologic symptoms that resemble those encountered in acute intermittent porphyria. [1]

8 relations: Autosome, Dominance (genetics), Genetic carrier, Heme, Hepatic porphyria, Heredity, List of cutaneous conditions, Porphobilinogen synthase.

Autosome

An autosome is a chromosome that is not an allosome (a sex chromosome).

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Dominance (genetics)

Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.

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Genetic carrier

A hereditary carrier (or just carrier), is a person or other organism that has inherited a recessive allele for a genetic trait or mutation but usually does not display that trait or show symptoms of the disease.

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Heme

Heme or haem is a coordination complex "consisting of an iron ion coordinated to a porphyrin acting as a tetradentate ligand, and to one or two axial ligands." The definition is loose, and many depictions omit the axial ligands.

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Hepatic porphyria

Hepatic porphyrias is a form of porphyria in which the enzyme deficiency occurs in the liver.

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Heredity

Heredity 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.

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List of cutaneous conditions

Many conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands.

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Porphobilinogen synthase

Porphobilinogen synthase (or ALA dehydratase, or aminolevulinate dehydratase) synthesizes porphobilinogen through the asymmetric condensation of two molecules of aminolevulinic acid.

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Redirects here:

ALA deficiency porphyria, ALA dehydratase deficiency, ALA dehydratase deficiency porphyria, ALA-D deficiency porphyria, ALAD porphyria, Aminolevulinate dehydratase deficiency, Aminolevulinate dehydratase deficiency porphyria, Doss porphyria, Plumboporphyria, Porphyria, Ala-D.

References

[1] https://en.wikipedia.org/wiki/Aminolevulinic_acid_dehydratase_deficiency_porphyria

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