Glutaric Acidemia, Type I (GA-1)

About

Glutaric acidemia, type I (GA-1) is an inherited condition in which the body is unable to break down certain proteins properly, which can lead to a harmful amount of organic acids and toxins in the body. If the condition is left untreated, it can cause brain defects or even death. However, if the condition is identified early and proper treatment is begun, individuals with GA-1 can often lead healthy lives. Signs of GA-1 may not be visible at birth, although some babies with this condition have a larger than average head. Babies who are identified through newborn screening as having GA-1 can begin treatment for the condition before symptoms appear. A baby with GA-1 who has not been treated will start to show signs between 4 months and 2 years of age. These signs include poor appetite, sleeping longer or more often, tiredness, irritability, twitches, vomiting, weak muscle tone (hypotonia), fever, delayed growth, rigid muscles (spasticity), developmental delays, and excessive sweating. Many of these signs may occur when a baby eats foods the body cannot break down. Symptoms can be triggered by long periods of time without eating, illnesses, and infections.