What is ALAD Porphyria?

ALAD Porphyria is also known as Aminolevulinic acid dehydratase deficiency porphyria. This is a genetic condition which can exhibit its true symptoms during early childhood. Adults can also be a victim of ALAD Porphyria which demonstrate acute neurological symptoms.

Also known as Doss porphyria or plumboporphyria, ALAD porphyria, is an autosomal recessive disorder in which, lowered enzymes cause accumulation of chemical in blood. This situation leads to severe skin condition, which can be treated only if detected in time. Let us understand the causes, symptoms, and treatment for ALAD porphyria.

What is ALAD Porphyria & How is it Treated?

Causes of ALAD Porphyria

ALA is an enzyme essential for carrying out the normal heme synthesis. Heme is a component of hemoglobin and many other essential hemoproteins. The heme is an important part of the blood which contributes in the production of hemoglobin that contains iron. In ALAD porphyria, there is deficiency of ALA enzyme. Hence heme synthesis is affected, which ultimately interferes in the functions related to it.

Although one of the causes of ALAD porphyria is believed to be genetic, there can be other conditions triggering this problem too. Those heavily into drugs and alcohol experience this condition and also severe mental stress can cause liver problems causing less production of heme, which finally results in ALAD porphyria. Thus, alcohol, drugs and severe mental stress too can be some of the causes of ALAD porphyria. Besides that, some infection, lack of adequate water intake and high levels of estrogen can also lead to development of symptoms of ALAD porphyria.

The victims of ALAD porphyria are mostly males who have a deficiency of ALAD enzyme in their body. These are some of the possible causes of ALAD porphyria which lead to severe form of abnormalities in the body of the person suffering from this disorder.

Symptoms of ALAD Porphyria

ALAD Porphyria Symptoms can be severe or mild depending upon the type of porphyria the person has acquired. The severity of ALAD porphyria depends upon the level of enzymes present in the body. If a person is highly deficient in enzymes, the symptoms of ALAD porphyria can be severe.

Mainly ALAD porphyria is characterized by neurological conditions the symptoms of which fall in line with porphyria.

Some of the common symptoms of ALAD porphyria include the following:

  • Retention of urine and difficulty in passing urine
  • Nausea and sometimes vomiting
  • Pain in abdomen, which be frequent but mostly does not remain persistent
  • Tingling sensation in legs or hands.
  • Stunted blood flow to the brain leading to gloominess which may persist for days
  • Difficulty in breathing
  • Difficulty in digestion. Constipation or diarrhea, which are the two extreme conditions indicating the abnormality the digestive tract can be a symptom of ALAD porphyria.
  • Complete or partial paralysis may occur due to severe damage of muscles and their functional aspect, leading to complete loss of movement
  • Because of decreased awareness, a person suffering from ALAD porphyria may feel lack of coordination while on the move.

Some people may also experience other symptoms of ALAD porphyria like palpitation, increased heart rate, seizures and high blood pressure. Besides the above symptoms, person suffering from ALAD Porphyria can experience some of the most troublesome situations in which it very difficult to cope with normal life.

How is ALAD Porphyria Treated?

Treatment of ALAD Porphyria mainly focuses on the type of the symptoms presented. Till date, very few people have been diagnosed with the disease and that is the reason, very limited information is available. For this reason, the treatment provided for ALAD porphyria is based on the symptoms that a person is suffering from.

The causes of ALAD porphyria are very generic but we can talk about the trigger factors which lead to making the problem severe than ever. As ALAD porphyria affects the mental cognitive ability, physicians strictly advise to avoid drugs and alcohol. Intake of intoxicants can also interact with the treatment for ALAD Porphyria and cause more problems. Some of the common treatments of ALAD porphyria, in addition to the symptomatic treatment include the intake of glucose and medication which enhance level of hemin in blood.

In case, symptoms of ALAD porphyria become highly severe, emergency medical treatment may be required. Hospitalization is often considered, if the ALAD porphyria symptoms are severe and difficult to manage with medications. Hemin is usually injected in the body and seizure attacks can be prevented with anti-convulsion drugs. Besides that, monitoring the level on salt and water in blood is required to maintain complete balance.

The chances of ALAD porphyria can be reduced by following a healthy lifestyle which can suppress the changes causing ALAD porphyria. Avoiding drugs and all sorts of intoxicants and incorporating exercise in daily routine can help mitigate the risk of this disorder.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: May 11, 2017

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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