Propionic acidemia (PROP) is an inherited condition in which the body is unable to break down certain proteins and fats, which can lead to a harmful amount of organic acids and toxins in the body. If left untreated, PROP can …
In methylmalonic acidemia (MMA), the enzyme methylmalonyl-CoA mutase (MUT) fails to break down odd-chain fatty acids and the amino acids isoleucine, valine, methionine, and threonine. A baby with MUT is either not making enough methylmalonyl-CoA mutase enzymes or is making …
Methylmalonic acidemia (MMA) is an inherited condition in which the body is unable to break down certain fats and proteins, which can lead to a harmful amount of organic acids and toxins in the body. MMA caused by cobalamin A …
Isovaleric acidemia (IVA) is an inherited condition in which the body is unable to break down certain proteins properly, which can lead to a harmful buildup of organic acids and toxins in the body. If untreated, IVA can cause brain …
3-methylcrotonyl-CoA carboxylase deficiency (3-MCC) is an inherited condition in which the body is unable to break down certain proteins properly, which can lead to harmful amounts of organic acids and toxins in the body. Early detection and treatment can often …
3-hydroxy-3-methylglutaric aciduria (HMG) is a condition in which the body is unable to break down certain proteins. People with the condition are also unable to produce ketone bodies, substances that help the body store energy. HMG can lead to a …
Holocarboxylase synthetase deficiency (MCD) is a condition in which the body is unable to break down proteins and carbohydrates. People with this condition have trouble using biotin, a vitamin that helps turn certain carbohydrates and proteins into energy for the …
Beta-ketothiolase deficiency (BKT) is an inherited condition in which the body is unable to break down certain proteins. People with the condition are also unable to produce ketone bodies, substances that help the body store energy, potentially leading to a …
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 …