Aminolevulinic acid dehydratase deficiency porphyria

This deficiency results in the accumulation of a toxic metabolic precursor in the heme synthesis pathway called aminolevulinic acid (ALA).

Other symptoms that can occur during an acute attack include a rapid heart beat, high blood pressure, and respiratory difficulties.

Patients have reported numbness and tingling in the extremities, seizures, burning pain, poor coordination, inability to move muscles voluntarily, and psychological disturbances.

[citation needed] Many triggers have been identified for acute ADP attacks including fasting, a low carb diet, dehydration, alcohol intake, the use of estrogen or progesterone, certain drugs, and other mental and physical stressors.

[8] In conditions where both parents are carriers: To make a diagnosis, the relevant presenting symptoms and a detailed patient history must be considered in addition to obtaining biomarkers in the urine or blood.

[11] If levels of porphyrins are significantly elevated, DNA testing can be performed to determine the specific mutations in the ALAD gene.