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Metabolicdisorders occur when the body is not able to break down (metabolize) certain substances in food like fats, proteins or sugars. These substances can build up in the body and cause serious health problems. Serious health problems can usually be prevented with early treatment.Citrullinemia (CIT) and Argininosuccinic Acidemia (ASA)Cobalamin Disorders (Cbl A,B) and Methylmalonic Acidemia (MUT)Glutaric Aciduria Type I (GA I)Galactosemia (GALT)Homocystinuria (Hcy)Isovaleric Acidemia (IVA)Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)Maple Syrup Urine Disease (MSUD)Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCAD)Phenylketonuria (PKU)Propionic Acidemia (PROP)Tyrosinemia I (Tyr I)Very-long chain AcylCoA Dehydrogenase Deficiency (VLCAD)
Citrullinemia (CIT) and Argininosuccinic Acidemia (ASA)
Babies with these inherited disorders are unable to process certain amino acids found in protein containing foods. They are also unable to remove some types of wastes (ammonia) from their bodies. These harmful substances build up in the blood. Babies with CIT or ASA may appear normal at birth. If untreated, they will start to show signs such as vomiting, muscle weakness, breathing problems, brain damage, coma and even death. If CIT and ASA are found through newborn screening, treatment with a special diet, medical formula and medicines can begin early. Many children with CIT and ASA that are treated early develop normally. One baby in 60,000 in BC is born with CIT or ASA.
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