Carnitine-acylcarnitine translocase deficiency (CACT) is a condition in which the body is unable to break down certain fats. People affected by CACT are unable to break down some of the fats eaten into energy the body needs to function. This …
Citrullinemia, type II (CIT II) is a condition in which the body is unable to make citrin, a protein that helps move substances within the cells. These substances are important for breaking down sugars, producing proteins and nucleotides, and allowing …
Hypermethioninemia (MET) is a condition that occurs when there is a high amount of methionine in the body. People with MET are unable to break down an amino acid, a building block of proteins, known as methionine, and do not …
Benign hyperphenylalaninemia (H-PHE) is a mild form of phenylketonuria (PKU). People with (H-PHE) have problems breaking down an amino acid, a building block of proteins, known as phenylalanine. People with H-PHE often do not show any symptoms.
Biopterin defect in cofactor biosynthesis (BIOPT-BS) is a condition that causes high amounts of phenylalanine and other harmful substances to build up in the body. People with BIOPT-BS are unable to process certain amino acids, a building block of protein. …
Biopterin defect in cofactor regeneration (BIOPT-REG) is a condition that causes high amounts of phenylalanine and other harmful substances to build up in the body. People with BIOPT-REG are unable to process certain amino acids, a building block of protein. …
Ornithine transcarbamylase deficiency (OTC) is a condition in which the body is unable to process and remove waste, causing dangerous amounts of ammonia to build up in the blood. This can result in severe mental disability, seizures, and a variety …
Carbamoyl phosphate synthetase deficiency (CPS) is an inherited condition in which the body is unable to process and remove waste, causing dangerous amounts of ammonia to build up in the blood. If left untreated, the condition can result in developmental …
Tyrosinemia, type II (TYR II) is a condition that can affect the eyes, skin, and intellectual development. People with tyrosinemia, type II are unable to break down an amino acid known as tyrosine. Tyrosinemia is a condition with multiple forms, …
Tyrosinemia, type III (TYR III) is an inherited condition in which the body is unable to break down certain building blocks of proteins, known as amino acids. People with tyrosinemia, type III are unable to break down an amino acid …