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HYPERLYSINEMIA

Hyperlysinemia

Medical condition

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

Hyperlysinemia

Alpha-aminoadipic semialdehyde synthase

Protein-coding gene in the species Homo sapiens

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

Alpha-aminoadipic semialdehyde synthase

Alpha-aminoadipic_semialdehyde_synthase

Lysine

Amino acid

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

Lysine

Hypusine

Chemical compound

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

Hypusine

Saccharopinuria

Medical condition

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

Saccharopinuria

List of genetic disorders

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

List of genetic disorders

List_of_genetic_disorders

Ectopia lentis

Malposition of the lens of the eye

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

Ectopia lentis

Ectopia_lentis

Saccharopine

Chemical compound

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

Saccharopine

List of ICD-9 codes 240–279: endocrine, nutritional and metabolic diseases, and immunity disorders

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

List of ICD-9 codes 240–279: endocrine, nutritional and metabolic diseases, and immunity disorders

List_of_ICD-9_codes_240–279:_endocrine,_nutritional_and_metabolic_diseases,_and_immunity_disorders

2,4 Dienoyl-CoA reductase deficiency

Medical condition

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

2,4 Dienoyl-CoA reductase deficiency

2,4_Dienoyl-CoA_reductase_deficiency

Saccharopine dehydrogenase

Protein family

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

Saccharopine dehydrogenase

Saccharopine_dehydrogenase

NADK2

Enzyme

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

NADK2

List of diseases (H)

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

List of diseases (H)

List_of_diseases_(H)

Congenital disorders of amino acid metabolism

Medical condition

Citrullinemia Hyperargininemia Hyperhomocysteinemia Hypermethioninemia Hyperlysinemias Nonketotic hyperglycinemia Propionic acidemia Hyperprolinemia Cystinuria

Congenital disorders of amino acid metabolism

Congenital_disorders_of_amino_acid_metabolism

List of OMIM disorder codes

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

List of OMIM disorder codes

List_of_OMIM_disorder_codes

Saccharopine dehydrogenase (NAD+, L-glutamate-forming)

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

Saccharopine dehydrogenase (NAD+, L-glutamate-forming)

Saccharopine_dehydrogenase_(NAD+,_L-glutamate-forming)

Saccharopine dehydrogenase (NADP+, L-lysine-forming)

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

Saccharopine dehydrogenase (NADP+, L-lysine-forming)

Saccharopine_dehydrogenase_(NADP+,_L-lysine-forming)

List of MeSH codes (C18)

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 –

List of MeSH codes (C18)

List_of_MeSH_codes_(C18)

List of MeSH codes (C10)

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

List of MeSH codes (C10)

List_of_MeSH_codes_(C10)

List of MeSH codes (C16)

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

List of MeSH codes (C16)

List_of_MeSH_codes_(C16)

Online names & meanings

Liora

Girl/Female

American, Australian, British, English, French, Greek, Hebrew, Latin

Liora

The Laurel Tree; Sweet Bay Tree Symbolic of Honor and Victory; Old Name with Many Variants; God's Gift of Light to Me; My Light

Wheelock

Surname or Lastname

English

Wheelock

English : habitational name from a place in Cheshire named Wheelock, from the Wheelock river, which is named with a Celtic word meaning â€˜windingâ€™.