Hyperlysinemia is an autosomal recessive metabolic disorder characterized by an abnormal increase of lysine in the blood, but appears to be benign. It...

spasticity, and psychomotor impairment. The clinical significance of hyperlysinemia is the subject of debate in the field with some studies finding no correlation...

alpha-aminoadipic semialdehyde synthase enzyme are associated with familial hyperlysinemia. This rare disease is inherited in an autosomal recessive pattern and...

syndrome Sulfite oxidase deficiency Molybdenum cofactor deficiency Hyperlysinemia Less common: Ehlers–Danlos syndrome Crouzon disease Refsum syndrome...

IDUA 1:100,000 Hutchinson–Gilford progeria syndrome LMNA 1:18,000,000 Hyperlysinemia AASS recessive Hyperoxaluria, primary AGXT, GRHPR, DHDPSL Hyperphenylalaninemia...

Hyperlipoproteinemia type IV Hyperlipoproteinemia type V Hyperlipoproteinemia Hyperlysinemia Hyperopia Hyperornithinemia Hyperornithinemia, hyperammonemia, homocitrullinuria...

hypusine was found in the urine of children and patients with familial hyperlysinemia. Hypusine was first isolated from bovine brain by Japanese scientists...

Hyperammonemia 270.7 Disorders of straight-chain amino-acid metabolism Hyperlysinemia Pipecolic acidemia Saccharopinuria 270.8 Other specified disorders of...

alpha-aminoadipic semialdehyde synthase deficiency, is a variant form of hyperlysinemia. It is caused by a partial deficiency of the enzyme saccharopine dehydrogenase...

reductase. Lysine degradation is also affected in this disorder leading to hyperlysinemia. The disorder is inherited in an autosomal recessive manner, meaning...