Autozomálně recesivní
Caused by changes in both copies of AASS, which makes an enzyme with two activities that performs the first steps of lysine breakdown. Reduced activity causes lysine, and sometimes saccharopine, to build up.
Příznaky a projevy
High lysine levels in the blood, usually found through metabolic screening. Many people are healthy. Developmental delay and other neurological features have been reported in some, but it is difficult to tell whether these are caused by the condition or by other factors.
Co se diagnózou změní
Treatment is usually not needed; if neurological symptoms are present, other causes should be investigated. Genetic counselling explains the recessive inheritance, and carrier testing is available for relatives.
Analyzované geny
Známé také jako
hyperlysinemia (disease); hyperlysinemia type I; L-lysine NAD-oxido-reductase deficiency; lysine alpha-ketoglutarate reductase deficiency
Zahrnuje 1 příbuzný podtyp ↓Skrýt podtypy ↑
- hyperlysinemia due to defect in lysine transport into mitochondria
