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Hyperlysinemia is an autosomal recessive metabolic disorder characterized by an abnormal increase of lysine in the blood, but appears to be benign. It is caused by mutations in AASS, which encodes α-aminoadipic semialdehyde synthase.
Standards, Signs and symptoms & Genetics
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autosomal recessive lysine disorder signs symptoms blood aass inherited defective gene one metabolic characterized abnormal increase appears benign caused mutations
| Subject | Predicate | Object | Confidence | Src |
|---|---|---|---|---|
| Hyperlysinemia | Other names | Lysine alpha-ketoglutarate reductase deficiency | 1.00 | infobox |
| Hyperlysinemia | Specialty | Endocrinology | 1.00 | infobox |
| Hyperlysinemia | is a | autosomal recessive metabolic disorder characterized by an abnormal increase of lysine in the blood | 0.90 | text |
| Hyperlysinemia | related to Genetics | This | 0.60 | section |
| Hyperlysinemia | related to Genetics | The | 0.60 | section |
| Hyperlysinemia | related to Signs and symptoms | While | 0.60 | section |
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