C133887Level 6
Acute Hepatic Porphyria
**Semantic type:** Disease or Syndrome
**Definition:** A family of rare genetic disorders characterized by episodes of severe, potentially life-threatening abdominal pain and neuropsychiatric symptoms due to abnormal heme production in the liver.
**Synonyms:** - ALAD Deficiency - Delta-Aminolevulinate Dehydratase Deficiency - Porphobilinogen Synthase Deficiency
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