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

2017-03-05. Markovitz PJ, Chuang DT, Cox RP (October 1984). "Familial hyperlysinemias. Purification and characterization of the bifunctional aminoadipic...

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

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

Citrullinemia Hyperargininemia Hyperhomocysteinemia Hypermethioninemia Hyperlysinemias Nonketotic hyperglycinemia Propionic acidemia Hyperprolinemia Cystinuria...

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

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

PMID 4385118. Markovitz PJ, Chuang DT, Cox RP (1984). "Familial hyperlysinemias. Purification and characterization of the bifunctional aminoadipic...

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

PMID 4385118. Markovitz PJ, Chuang DT, Cox RP (1984). "Familial hyperlysinemias. Purification and characterization of the bifunctional aminoadipic...

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

Higashino, K. (1998). "Saccharopinuria (a variant form of familial hyperlysinemia)". Ryoikibetsu Shokogun Shirizu (18 Pt 1): 191–4. PMID 9590025. Darling...

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

Affected individuals also show metabolic abnormalities, including hyperlysinemia and impaired fat oxidation with elevated C10:2-carnitine levels, consistent...

320.565.066.480 – hyperhomocysteinemia MeSH C16.320.565.066.544 – hyperlysinemias MeSH C16.320.565.066.608 – maple syrup urine disease MeSH C16.320.565...

100.100.375 – hyperglycinemia, nonketotic MeSH C18.452.100.100.380 – hyperlysinemias MeSH C18.452.100.100.412 – Leigh disease MeSH C18.452.100.100.425 –...

100.375 – hyperglycinemia, nonketotic MeSH C10.228.140.163.100.380 – hyperlysinemias MeSH C10.228.140.163.100.412 – leigh disease MeSH C10.228.140.163.100...

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

alpha-helices and loops (alpha/beta fold). Deficiencies are associated with hyperlysinemia. Kumar VP, West AH, Cook PF (June 2012). "Supporting role of lysine...

malformations; 116860; CCM1 Hyperlipoproteinemia, type Ib; 207750; APOC2 Hyperlysinemia; 238700; AASS Hypermethioninemia, persistent, autosomal dominant, due...