Organic Acidemia

What is organic acidemia?

The term organic acidemia, sometimes also called organic aciduria, is used to classify a group of metabolic disorders. These disorders all disrupt various enzymes’ work to metabolize (break down) amino acids, which results in the buildup of acids that are not normally that present. That buildup can cause damage to the brain and nervous system. All organic acidemias are inherited as autosomal recessive traits. Human traits are inherited from an individual’s father and mother. They each contribute a gene, which interacts with the other. In recessive disorders, the condition does not appear unless a person inherits a mutated copy of the gene from both parents. Organic acidemias are most commonly diagnosed in very early infancy. Symptoms usually appear in the first week of life, though they can develop later in infancy or in early childhood.

What are the main types of organic acidemia?

What treatment options are available for organic acidemia?

Treatments vary depending on the type of organic acidemia disorder (clink on above links for more details), but they commonly involve the implementation of a regulated diet low in protein. This is to limit the intake of specific proteins which contribute to the individual’s disease. Genetic counseling is also often recommended for the patient and his/her family.

Where can I find out more about organic acidemia disorders?