Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) is a condition in which the body is unable to break down certain fats. Individuals affected with MCAD are unable to convert some of the fats they eat into energy the body needs to function. …
Very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD) is a condition in which the body is unable to break down certain fats. Individuals affected by VLCAD are unable to convert some of the fats they eat into energy the body needs to function. …
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a condition in which the body is unable to break down certain fats. Individuals affected by LCHAD are unable to convert some of the fats they eat into energy the body needs to …
Trifunctional protein deficiency (TFP) is a condition in which the body is unable to break down certain fats. Individuals affected by TFP are unable to convert some of the fats they eat into energy the body needs to function. Instead, …
Argininosuccinic aciduria (ASA) is a condition that causes dangerous amounts of ammonia to build up in the body. Individuals with ASA are unable to process the waste product ammonia, which is produced when the body breaks down amino acids. ASA …
Citrullinemia, type I (also known as classic citrullinemia or CIT) usually becomes evident in the first few days of life. Affected babies typically appear normal at birth, but as ammonia builds up they experience a progressive lack of energy (lethargy), …
Maple syrup urine disease (MSUD) is a condition in which the body is unable to break down certain proteins. The condition is named for the sweet odor of the urine of untreated babies. Individuals with MSUD have trouble breaking down …
Homocystinuria (HCY) is a condition in which the body is unable to break down certain proteins. Individuals with HCY cannot process certain amino acids, small molecules that make up proteins. These amino acids build up in the body and can …
Classic phenylketonuria (PKU) is a condition in which the body is unable to break down certain building blocks of proteins, known as amino acids. Individuals with PKU cannot break down the amino acid phenylalanine. If left untreated, PKU can cause …
Tyrosinemia, type I (TYR I) is an inherited condition in which the body is unable to break down certain building blocks of proteins, known as amino acids. Individuals with this condition are unable to break down the amino acid tyrosine. …