Lysine Metabolism Disorders
Disease (OMIM Number) | Defective Proteins or Enzymes | Comments |
|---|---|---|
Hyperlysinemia (238700*) | Lysine:alpha-ketoglutarate reductase | Biochemical profile: Hyperlysinemia Clinical features: Muscle weakness, seizures, mild anemia, intellectual disability, joint and muscular laxity, ectopia lentis; sometimes benign Treatment: Limited lysine intake |
2-Ketoadipic acidemia (245130*) | 2-Ketoadipic dehydrogenase | Biochemical profile: Elevated urine 2-ketoadipate, 2-aminoadipate, and 2-hydroxyadipate Clinical features: Benign Treatment: None needed |
Glutaric acidemia type I (231670*) | Glutaryl CoA dehydrogenase | Biochemical profile: Elevated urinary glutaric acid and 2-hydroxyglytaric acid Clinical features: Dystonia, dyskinesia, degeneration of the caudate and putamen, frontotemporal atrophy, arachnoid cysts Treatment: Aggressive treatment of intercurrent illness, carnitine |
Saccharopinuria (268700*) | Alpha-aminoadipic semialdehyde-glutamate reductase | Biochemical profile: Elevated urine lysine, citrulline, histidine, and saccharopine Clinical features: Intellectual disability, spastic diplegia, short stature, electroencephalographic abnormality Treatment: No clear treatment |
* For complete gene, molecular, and chromosomal location information, see the Online Mendelian Inheritance in Man (OMIM) database. | ||