Urea Cycle Defects are a group of inherited metabolic diseases, characterized by deficiencies in enzymes and transporters involved in the urea cycle, a metabolic pathway dedicated to the transformation of...

Leucinosis is a hereditary metabolic disease, characterized by the inability of the individual affected to metabolize branched chain amino acids (leucine, isoleucine and valine). Amino acids are the constituent units...

Phenylketonuria (PKU) is a condition characterized by the inability of the individual affected to metabolize a specific amino acid, phenylalanine. Amino acids are the constituent units of proteins and are...

Methylmalonic Aciduria and Propionic Aciduria are hereditary metabolic diseases related to the metabolism of some amino acids. Amino acids are the constituent units of proteins and are therefore taken daily...

Glutaric Aciduria is an inherited metabolic disease that involves the metabolism of three amino acids: lysine, hydroxylisine and tryptophan. Amino acids are the constituent units of proteins and are therefore...

Isovaleric Aciduria is an inherited metabolic disease related to the metabolism of the amino acid leucine. Amino acids are the constituent units of proteins and are therefore daily taken as...

Classical homocystinuria is an inherited metabolic disease characterized by the deficiency of an enzyme involved in the methyl metabolic pathway of the amino acid methionine. This deficiency leads to the...

TYPE 1 TYROSINEMIA Type 1 tyrosinemia is an inherited metabolic disease characterized by the inability of the individual affected to metabolize a specific amino acid, tyrosine. Amino acids are the...