ALAD Deficiency Porphyria
What is ALAD deficiency porphyria?
ALAD deficiency porphyria is a very rare type of porphyria. The disorder results from low levels of the enzyme responsible for the second step in haeme production. Haeme is a vital molecule for all of the body's organs. It is a component of haemoglobin, the molecule that carries oxygen in the blood.
ALAD deficiency porphyria is a subtype of porphyria.
Signs and symptoms, which have varied in the few people diagnosed with ALAD deficiency porphyria, include weak muscle tone (hypotonia) in infancy, acute attacks of abdominal pain and muscle weakness, and muscle pain or numbness. These signs and symptoms can begin in infancy, childhood, or adulthood.
How common is ALAD deficiency porphyria?
This disorder is very rare; fewer than 10 cases have ever been reported worldwide.
What genes are related to ALAD deficiency porphyria?
Mutations in the ALAD gene cause ALAD deficiency porphyria.
The ALAD gene makes an enzyme called delta-aminolevulinate hydratase, which is critical to the chemical process that leads to haeme production. If gene mutations prevent sufficient activity of this enzyme, haeme cannot be produced normally. Instead, a byproduct of the process called aminolevulinic acid (ALA) builds up in the body, causing the signs and symptoms of this form of porphyria. Low levels of delta-aminolevulinate hydratase can also increase the risk of developing lead poisoning.
How do people inherit ALAD deficiency porphyria?
This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.
What other names do people use for ALAD deficiency porphyria?
* ADP
* 5-ALA dehydratase-deficient porphyria
* ALA dehydratase porphyria
* ALADP
* ALAD porphyria
* ALA-D porphyria
* 5-aminolaevulinic dehydratase deficiency porphyria
* Amino levulinic acid dehydratase deficiency
* Delta-aminolevulinate dehydratase deficiency porphyria
* Doss porphyria
* Plumboporphyria
* Porphobilinogen synthase deficiency
* Porphyria, ALA-D type
