E72: Other disorders of amino-acid metabolism

The group of conditions known as "Other disorders of amino-acid metabolism" are metabolic disorders that affect the body's ability to break down or use certain amino acids. Amino acids are the building blocks of proteins, and these disorders are usually caused by defects or mutations in the genes responsible for the enzymes involved in amino acid breakdown. This results in the accumulation of these amino acids or their toxic metabolites in the body affecting overall health. Transmission of these disorders is usually genetic, meaning they are inherited from the parents. Symptoms of these conditions can vary widely, but often include poor growth, developmental delays, seizures, and problems with the skin, hair, or nails. Affected individuals may also experience episodes of illness, called crises, during times of stress, illness, or after consumption of certain types of food. Over time, these disorders can cause damage to various body systems, including the nervous system, leading to progressively worsening health problems.