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Disease or Condition — Hormonal, Nutritional, Metabolic, and Immune Disorders:
ALADH deficiency

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Description

Aminolevulinate dehydratase (ALAD) deficiency porphyria is a rare autosomal recessive disorder caused by a deficiency of the enzyme ALAD. This enzyme is responsible for the conversion of aminolevulinic acid (ALA) to porphobilinogen (PBG) in the heme biosynthesis pathway. When ALAD is deficient, ALA accumulates in the body, leading to the development of symptoms associated with porphyria. Symptoms of ALAD deficiency porphyria include abdominal pain, nausea, vomiting, constipation, and dark urine. In severe cases, neurological symptoms such as seizures, confusion, and psychosis may occur. Treatment of ALAD deficiency porphyria typically involves dietary modifications, medications to reduce ALA levels, and supportive care.

Synonyms
  • acute hepatic porphyria
  • ADP
  • ALAD deficiency
  • ALAD porphyria
  • aminolevulinate dehydratase deficiency porphyria
  • delta-aminolevulinate dehydratase deficiency
  • Doss porphyria
  • porphobilinogen synthase deficiency
Symptoms (patient's findings)
  • abdominal pain
  • back pain
  • chest pain
  • constipation
  • nausea
  • thigh pain
  • vomiting
Signs (examiner's findings)
  • coma
  • convulsions
  • disorientation
  • muscle weakness
  • paralytic syndrome
  • stupor
Basic Lab Tests (measurements)

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
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