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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/11/19 21:07:15」(JST)

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Hyperlysinemia is an autosomal recessive^[1] metabolic disorder characterized by an abnormal increase of lysine in the blood, but appears to be benign.^[2] It is caused by mutations in AASS, which encodes α-aminoadipic semialdehyde synthase.^[1]^[3]

Hyperlysinemia has an autosomal recessive pattern of inheritance.

Genetics

Hyperlysinemia is inherited in an autosomal recessive manner.^[1] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

References

^ ^a ^b ^c Sacksteder KA, Bier BJ, Morrell JC, Goodman BK, Geisbrecht BV, Cox RP, Gould SJ, Geraghty MT (June 2000). "Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia". American Journal of Human Genetics 66 (6): 1736–1743. doi:10.1086/302919. PMC 1378037. PMID 10775527.
^ Dancis, J; Hutzler J; Ampola MG; Shih VE; van Gelderen HH; Kirby LT; Woody NC (May 1983). "The prognosis of hyperlysinemia: an interim report". Am J Hum Genet. 35 (3): 438–442. PMC 1685659. PMID 6407303.
^ Houten, Sander; te Brinke H, Denis S, Ruiter JP, Knegt AC, de Klerk JB, Augoustides-Savvopoulou P, Häberle J, Baumgartner MR, Coşkun T, Zschocke J, Sass JO, Poll-The BT, Wanders RJ, Duran M (Apr 9, 2013). "Genetic basis of hyperlysinemia". Orphanet J Rare Dis. 8: 57. doi:10.1186/1750-1172-8-57. PMC 3626681. PMID 23570448. Cite uses deprecated parameters (help)

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UpToDate Contents

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1. 関節過剰可動性症候群 joint hypermobility syndrome

English Journal

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.

Tondo M, Calpena E, Arriola G, Sanz P, Martorell L, Ormazabal A, Castejon E, Palacin M, Ugarte M, Espinos C, Perez B, Perez-Dueñas B, Pérez-Cerda C, Artuch R.SourceInborn Errors of Metabolism Unit, Hospital Sant Joan de Déu, Barcelona, Spain. Electronic address: mtondo@hsjdbcn.org.
Molecular genetics and metabolism.Mol Genet Metab.2013 Jul 6. pii: S1096-7192(13)00223-0. doi: 10.1016/j.ymgme.2013.06.021. [Epub ahead of print]
Our aim was to report two new cases of hyperlysinemia type I describing the clinical, biochemical and molecular features of the disease and the outcome of lysine restriction. Two children presented with febrile seizures followed by developmental delay, clumsiness and epilepsy. At age 2 and 8years a
PMID 23890588

Genetic basis of hyperlysinemia.

Houten SM, Te Brinke H, Denis S, Ruiter JP, Knegt AC, de Klerk JB, Augoustides-Savvopoulou P, Häberle J, Baumgartner MR, Coşkun T, Zschocke J, Sass JO, Poll-The BT, Wanders RJ, Duran M.SourceDepartment of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam, AZ 1105, The Netherlands. s.m.houten@amc.uva.nl
Orphanet journal of rare diseases.Orphanet J Rare Dis.2013 Apr 9;8:57. doi: 10.1186/1750-1172-8-57.
BACKGROUND: Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding α-aminoadipic semialdehyde synthase has been reported. We aimed to better define the genetic basis of hyperlysinemia.METHODS: We collected the clinic
PMID 23570448

Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.

Pérez B, Gutiérrez-Solana LG, Verdú A, Merinero B, Yuste-Checa P, Ruiz-Sala P, Calvo R, Jalan A, Marín LL, Campos O, Ruiz MÁ, San Miguel M, Vázquez M, Castro M, Ferrer I, Navarrete R, Desviat LR, Lapunzina P, Ugarte M, Pérez-Cerdá C.SourceCenter of Diagnosis of Molecular Diseases, Center of Molecular Biology UAM-CSIC, Center for Biomedical Network Research on Rare Diseases, Institute for Health Research, IDIPAZ, Autonomous University of Madrid, Madrid, Spain. bperez@cbm.uam.es
Epilepsia.Epilepsia.2013 Feb;54(2):239-48. doi: 10.1111/epi.12083. Epub 2013 Jan 25.
PURPOSE: Pyridoxine-dependent epilepsy seizure (PDE; OMIM 266100) is a disorder associated with severe seizures that can be controlled pharmacologically with pyridoxine. In the majority of patients with PDE, the disorder is caused by the deficient activity of the enzyme α-aminoadipic semialdehyde d
PMID 23350806

Japanese Journal

膜転送障害に基づく先天性アミノ酸代謝異常症の病因解析に関する研究

青山卓生
1986-10-01
… Familial hyperlysinemia was first described by Woody (1964). … (1976, 1979) demonstrated that the mechanism of familial hyperlysinemia involved enzyme defects of lysine-α-ketoglutarate reductase and saccharopine dehydrogenase. … Recently the author encountered two siblings having familial hyperlysinemia in whom the enzyme activities of lysine-α-ketoglutarate reductase and saccharopine dehydrogenase in liver were normal. …
NAID 120001796598

先天性アミノ酸代謝異常症に伴う高アンモニア血症の成因に関する研究　第I編　リジン代謝異常症に伴う高アンモニア血症の成因

十川英明
1978-04-01
… The purpose of this study is to investigate the etiology of hyperammonemia associated with hyperlysinemia and massive homocitrullinuria. …
NAID 120002081523

Clinical and Biochemical Studies on Periodic Hyperammonemia with Hyperlysinemia and Homocitrullinuria

Oyanagi Kazuhiko [他],SOGAWA HIDEAKI,SATO SHIGEO,ORII TADAO,NAKAO TOORU,FUJITA SHIGERU
The Tohoku Journal of Experimental Medicine 120(2), 105-112, 1976
… An 18-year-old mentally and physically retarded boy, suffering from episodes of anorexia, vomiting, coma and convulsion which have been severer with advance in age, had periodic hyperammonemia, hyperlysinemia and homocitrullinuria. … The oral loading tests of L-lysine revealed hyperammonemia, hyperlysinemia, hyperargininemia, hypercitrullinemia and homocitrullinuria. …
NAID 130003492246

Related Pictures

★リンクテーブル★

リンク元	「アミノ酸代謝異常症」「高リシン血症」「高リジン血症」
拡張検索	「familial hyperlysinemia」

「アミノ酸代謝異常症」

Hyperlysinemia
	Classification and external resources
	lysine
ICD-10	E72.3
ICD-9	270.7
OMIM	238700
DiseasesDB	33215
MeSH	D020167

　　[★]

英: aminoacidopathy, disorder of aminoacid metabolism disorders of amino acid metabolism
同: アミノ酸代謝異常、先天性アミノ酸代謝異常症先天性アミノ酸代謝異常 inborn error of amino acid metabolism

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