hyperlysinemia


hyperlysinemia
A metabolic disorder characterized by mental retardation, convulsions, anemia, and asthenia; associated with an abnormal increase of the amino acid lysine in the circulating blood due to a deficiency of lysine-ketoglutarate reductase. One variant [MIM*268700] is associated with a deficiency of α-aminoadipic semialdehyde synthase, resulting in h. and saccharopinemia.

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hy·per·ly·sin·emia (hi″pər-li″se-neґme-ə) 1. excess of lysine in the blood. 2. an autosomal recessive aminoacidopathy due to mutation in the AASS gene (locus: 7q31.3), which encodes α-aminoadipic semialdehyde synthase, causing deficiency of both of its enzyme activities (lysine-ketoglutarate dehydrogenase and saccharopine dehydrogenase); it is characterized by excess of lysine and, to a lesser degree, saccharopine, in the blood and urine. Cf. saccharopinuria.

Medical dictionary. 2011.

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  • Saccharopinuria — Infobox Disease Name = PAGENAME Caption = Saccharopine Width = 125px DiseasesDB = ICD10 = ICD9 = ICD9|270.7 ICDO = OMIM = 268700 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Saccharopinuria (an excess of saccharopine in the urine),… …   Wikipedia

  • AASS — Aminoadipate semialdehyde synthase, also known as AASS, is a human gene.cite web | title = Entrez Gene: AASS aminoadipate semialdehyde synthase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=10157|… …   Wikipedia

  • saccharopinuria — Elevated levels of saccharopine in the urine; associated with a variant of familial hyperlysinuria. * * * sac·cha·ro·pin·uria (sak″ə ro pĭ nuґre ə) 1. excretion of saccharopine in the urine. 2. a variant form of… …   Medical dictionary

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