Porpyria is a group of disorder in which there is accumulation of porphyrin, a type of chemical that is essential for proper functioning of hemoglobin. Too much of porphyrin can cause serious problems mainly affecting the nervous system, skin and other tissues.
ALAD porphyria is a rare genetic disease in which there is deficiency of an enzyme ALA. Deficiency of this enzyme causes collection of porphyrin in the body. Patients suffering from this disease mainly have neurological and gastrointestinal problems. It is an inherited disorder.
Since ALAD porphyria is very rare, there is limited study on it.Treatment is thus aimed at addressing the symptoms.
What Causes ALAD Porphyria?
ALAD porphyria is an inherited disorder caused due to mutation of the genes. The defect is in ALAD gene on chromosome 9. The risk is same in males and females. Normally the gene creates enzyme aminolevulinate dehydratase (ALAD). It is necessary for producing heme which is essential for production of hemoglobin. Heme is mainly produced in liver and bone marrow.
Alteration in the genetic trait of ALDA will thus affect the production of porphobilinogen which is necessary for carrying the oxygen component in the red blood cells.As there is accumulation of ALA, it causes the symptoms of ALDA porphyria.
There are varieties of trigger noted for precipitating ALDA porphyria. These triggers include alcohol, medications, too much of mental stress, dehydration, infection, estrogen and progesterone.
Signs And Symptoms Of ALAD Porphyria
The symptoms of porphyria quiet often vary according to the type of porphyria. This depends on the amount of enzyme present in each person. The symptoms can be mild or severe depending on the deficiency of the enzyme. The main symptoms are neurological. These symptoms often mimic with other types of porphyria, mainly acute intermittent porphyria.
- Frequent pain in abdomen. The pain in colicky in nature. It means pain comes and goes frequently.
- Nausea and vomiting may be severe or moderate.
- Patient may also complain of constipation or diarrhea.
- There may be retention of urine.
- Motor or sensory nerves are affected. There is weakness and tingling in the legs and hands. The other symptoms are burning in feet, and lack of coordination.
- If there is severe involvement of motor nerves there may be complete or partial damage to voluntary muscles function.
- Severe attacks can lead to psychosis. Patient loses contact with real life.
- There may be breathing difficulty, raised heart rate, seizures and high blood pressure.
Treatment Options For ALAD Porphyria
The treatment of ALAD porphyria is focused on the specific symptoms that are present in the patient. Since the disease is very rare with only limited information, this sickness is treated symptomatically. Certain triggers should be avoided that are known to worsen the condition. Person should avoid alcohol, certain triggering drugs etc.
Besides avoidance of triggers, there is also a standard treatment which consists of infusion of intravenous hemin and glucose. During the acute attack, patient may need pain medication to relieve pain. Patient may also need other drugs to alleviate nausea and vomiting. In case of seizure, patient may also need anticonvulsant medicines.