An inherited disorder in which the body cannot process a multiple protein building block (amino acid) called Methionine, Threonine, Isoleucine and Valine.
3-methylcrotonyl-CoA carboxylase deficiency (also known as 3-MCC deficiency) (3MCC)
An inherited disorder in which the body is unable to break down a certain amino acid called leucine. People with this disorder either lack of have a poorly working enzyme that helps break down leucine. When someone with 3-MCC eats food containing leucine, it can’t be used and it and other harmful substances can build […]
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (also known as HMG-CoA lyase deficiency) (HMG)
An inherited disorder in which the body cannot process a particular protein building block (amino acid) called leucine. Additionally, the disorder prevents the body from making ketones, which are used for energy especially during periods without food (fasting) or when sick.
2-Methyl-3-hydroxybutyric aciduria (2M3HBA)
An inherited disorder in which the body cannot process particular protein building blocks (amino acids) and also fats which are used for energy especially during periods without food (fasting) or when sick.
2-methylbutyryl-CoA dehydrogenase deficiency (2MGB)
An inherited disorder in which the body cannot process particular protein building blocks (amino acids) and also fats which are used for energy especially during periods without food (fasting) or when sick.
