Organic Acidemias

A group of inheritable metabolic disorders that are characterized by a defect in protein metabolism in which an essential enzyme is absent or malfunctioning resulting in a build up of chemicals, usually acids, on one side of the metabolic blockage and a deficiency of vital chemicals on the other. As a result, there is an overdosage of one chemical (often toxic) and the shortage of another which is essential to normal body functioning. 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.