Saccharopinuria also called saccharopinemia, saccharopine dehydrogenase deficiency or alpha-aminoadipic semialdehyde synthase deficiency, is a variant form of hyperlysinemia

Hyperlysinemia

Hyperlysinemia is an autosomal recessive metabolic disorder characterized by an abnormal increase of lysine in the blood, but appears to be benign. It can be associated with saccharopine dehydrogenase.- Genetics :...

. It is caused by a partial deficiency of the enzyme

Enzyme

Enzymes are proteins that catalyze chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical reactions in a biological cell need enzymes in order to occur at rates...

 saccharopine dehydrogenase

Saccharopine dehydrogenase

Saccharopine dehydrogenase is an enzyme involved in the metabolism of lysine, via saccharopine.It can be classified under , , , and ....

, which plays a secondary role in the lysine

Lysine

Lysine is an α-amino acid with the chemical formula HO2CCH4NH2. It is an essential amino acid, which means that the human body cannot synthesize it. Its codons are AAA and AAG....

 metabolic pathway. Inheritance is thought to be autosomal

Autosome

An autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...

 recessive, but this cannot be established as individuals affected by saccharopinuria typically have only a 40% reduction in functional enzyme.