The topic Doss Porphyria you are seeking is a synonym, or alternative name, or is closely related to the medical condition Aminolevulinic Acid Dehydratase Deficiency Porphyria.

Quick Summary:

• Porphyrias are disorders resulting from excess porphyrin buildup in the liver and bone marrow. Manufacturing hemoglobin and related proteins (heme synthesis) involves a class of molecules called porphyrins. Porphyrias are either inherited or acquired, and are described as acute, chronic, and cutaneous
• Aminolevulinic Acid Dehydratase Deficiency Porphyria (ALAD Porphyria) is an extremely rare congenital condition affecting heme metabolism, usually having  onset in childhood. It is generally described as a neuropsychiatric condition. Unlike many other porphyria types, signs and symptoms involving the skin are not noted
• Aminolevulinic Acid Dehydratase Deficiency Porphyria is an acute form of porphyria that is typically inherited in an autosomal recessive manner, due to certain gene mutations which cause a defect in heme production in the bone marrow and liver. ALAD Porphyria is termed as a hepatic porphyria, meaning that the porphyrin compounds accumulate in the liver
• The disorder is characterized by neurological and psychiatric symptoms that include muscle pain, weakness, confusion, and hallucinations. A healthcare provider typically diagnoses this genetic disorder by testing porphyrin levels in urine and blood samples, along-with symptom assessment
• The treatment for Aminolevulinic Acid Dehydratase Deficiency Porphyria involves symptomatic treatment, and this includes administering intravenous heme and antipsychotic medications
• The prognosis of Aminolevulinic Acid Dehydratase Deficiency Porphyria is determined by the severity of symptoms and whether any complications have developed in the individual

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