Organic Acidemia

Organic Acidaemias are a group of inheritable genetic metabolic disorders in which there is a defect in protein metabolism where an essential enzyme is absent or malfunctioning. This defect results in a build up of chemicals, in this case usually acids, on one side of the metabolic blockage and a deficiency of vital chemicals on the other. This causes an overdosage of one chemical (often toxic) and the shortage of another which is essential to normal body functioning.

The effect of the disorder will depend upon the age at which symptoms occur. Children with less severe forms of the conditions develop symptoms later.

Characteristics of the conditions include general malaise, reluctance to feed, breathing problems, vomiting, hypotonia (floppiness) and/or spasticity (stiffness).

Early detection and treatment can greatly mitigate the effects of the disorder.

For more information contact the Organic Acidemia Association