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- Aminolevulinic acid dehydratase deficiency porphyria (also known as "Doss porphyria", "plumboporphyria", or "ADP") is an extremely rare autosomal recessive metabolic disorder that results from inappropriately low levels of the enzyme 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 (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. (en)
- La porfiria da carenza di ALA deidratasi, anche conosciuta come porfiria di Doss o plumboporfiria, è una rara malattia metabolica facente parte del gruppo delle porfirie epatiche. (it)
- A deficiência de ALA (ácido delta-aminolevulínico) desidratase é um tipo de porfiria hepática. (pt)
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- 11748 (xsd:nonNegativeInteger)
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- ALA dehydratase deficiency has an autosomal recessive pattern of inheritance. (en)
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- Aminolevulinic acid dehydratase deficiency porphyria (en)
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- Porphyria due to ALA dehydratase deficiency (en)
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- La porfiria da carenza di ALA deidratasi, anche conosciuta come porfiria di Doss o plumboporfiria, è una rara malattia metabolica facente parte del gruppo delle porfirie epatiche. (it)
- A deficiência de ALA (ácido delta-aminolevulínico) desidratase é um tipo de porfiria hepática. (pt)
- Aminolevulinic acid dehydratase deficiency porphyria (also known as "Doss porphyria", "plumboporphyria", or "ADP") is an extremely rare autosomal recessive metabolic disorder that results from inappropriately low levels of the enzyme 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 (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. (en)
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| rdfs:label
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- Aminolevulinic acid dehydratase deficiency porphyria (en)
- Porfiria da carenza di ALA deidratasi (it)
- Deficiência de ALA desidratase (pt)
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- Aminolevulinic acid dehydratase deficiency porphyria (en)
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