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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)

• serum
  •      delta-aminolevulinate
  •      calcium
• urine
  •      coproporphyrins
  •      porphobiliogen : creatinine ratio
  •      delta-aminolevulinate
  •      porphobilinogen
• vital signs
  •      blood pressure
  •      systolic blood pressure
  •      pulse
  •      diastolic blood pressure

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
All of the following must be considered when interpreting clinical findings and are too extensive to be covered on this site: