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Increased CSF lysine concentration

MedGen UID:
1690150
Concept ID:
C5139593
Finding
Synonym: High lysine levels in cerebrospinal fluid
 
HPO: HP:0500208

Definition

Abnormally increased levels of lysine in cerebrospinal fluid. [from HPO]

Conditions with this feature

Hyperlysinemia
MedGen UID:
82816
Concept ID:
C0268553
Disease or Syndrome
Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. Some patients who present in infancy with nonspecific seizures, hypotonia, or mildly delayed psychomotor development have been found to have increased serum lysine and pipecolic acid on laboratory analysis. However, about 50% of probands are reported to be asymptomatic, and hyperlysinemia is generally considered to be a benign metabolic variant (summary by Tondo et al., 2013; Houten et al., 2013). The AASS gene encodes a bifunctional enzyme: lysine alpha-ketoglutarate reductase and saccharopine dehydrogenase. In hyperlysinemia type I, both enzymatic functions of AASS are defective; in hyperlysinemia type II, also known as saccharopinuria (268700), some of the first enzymatic function is retained (Cox, 1985; Cox et al., 1986).
Progressive encephalopathy with leukodystrophy due to DECR deficiency
MedGen UID:
346552
Concept ID:
C1857252
Disease or Syndrome
2,4-Dienoyl-CoA reductase deficiency (DECRD) is a rare autosomal recessive inborn error of metabolism resulting in mitochondrial dysfunction due to impaired production of NADPH, which is an essential cofactor for several mitochondrial enzymes. Affected individuals have a variable phenotype: some may have severe neurologic symptoms and metabolic dysfunction beginning in early infancy, whereas others may present with more subtle features, such as childhood-onset optic atrophy or intermittent muscle weakness. The variable severity is putatively dependent on the effect of the mutation on the NADK2 enzyme. Biochemical analysis typically shows hyperlysinemia, due to defective activity of the mitochondrial NADP(H)-dependent enzyme AASS (605113), which is usually a benign finding. More severe cases have increased C10:2-carnitine levels, due to defective activity of the enzyme DECR (DECR1; 222745) (summary by Houten et al., 2014 and Pomerantz et al., 2018).

Recent clinical studies

Etiology

Mader MM, Böger R, Appel D, Schwedhelm E, Haddad M, Mohme M, Lamszus K, Westphal M, Czorlich P, Hannemann J
J Cereb Blood Flow Metab 2021 Aug;41(8):1964-1977. Epub 2021 Jan 18 doi: 10.1177/0271678X20983216. PMID: 33461409Free PMC Article
Monacelli F, Borghi R, Pacini D, Serrati C, Traverso N, Odetti P
Clin Chem Lab Med 2014 Jan 1;52(1):117-20. doi: 10.1515/cclm-2012-0829. PMID: 23612599
Kärkelä JT
J Forensic Sci 1993 May;38(3):603-16. PMID: 8515212
Kruse T, Reiber H, Neuhoff V
J Neurol Sci 1985 Sep;70(2):129-38. doi: 10.1016/0022-510x(85)90082-6. PMID: 4056818
Iijima K, Takase S, Tsumuraya K, Endo M, Itahara K
Tohoku J Exp Med 1978 Oct;126(2):133-50. doi: 10.1620/tjem.126.133. PMID: 715764

Diagnosis

Monacelli F, Borghi R, Pacini D, Serrati C, Traverso N, Odetti P
Clin Chem Lab Med 2014 Jan 1;52(1):117-20. doi: 10.1515/cclm-2012-0829. PMID: 23612599
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
Mol Genet Metab 2013 Nov;110(3):231-6. Epub 2013 Jul 6 doi: 10.1016/j.ymgme.2013.06.021. PMID: 23890588
Scholl-Bürgi S, Sass JO, Zschocke J, Karall D
J Inherit Metab Dis 2012 Jan;35(1):65-70. Epub 2010 Nov 27 doi: 10.1007/s10545-010-9245-9. PMID: 21113738
Jeitner TM, Matson WR, Folk JE, Blass JP, Cooper AJ
J Neurochem 2008 Jul;106(1):37-44. Epub 2008 Jul 1 doi: 10.1111/j.1471-4159.2008.05350.x. PMID: 18422943Free PMC Article
Ahmed N, Ahmed U, Thornalley PJ, Hager K, Fleischer G, Münch G
J Neurochem 2005 Jan;92(2):255-63. doi: 10.1111/j.1471-4159.2004.02864.x. PMID: 15663474

Therapy

Shalaby WS, Yeh H, Woo E, Corbett JT, Gray H, June CH, Shalaby SW
J Biomed Mater Res B Appl Biomater 2004 May 15;69(2):173-82. doi: 10.1002/jbm.b.20040. PMID: 15116407
Martinez M, Arnalich F, Vazquez JJ, Hernanz A
Life Sci 1993;53(21):1643-50. doi: 10.1016/0024-3205(93)90188-9. PMID: 7694027

Clinical prediction guides

Mader MM, Böger R, Appel D, Schwedhelm E, Haddad M, Mohme M, Lamszus K, Westphal M, Czorlich P, Hannemann J
J Cereb Blood Flow Metab 2021 Aug;41(8):1964-1977. Epub 2021 Jan 18 doi: 10.1177/0271678X20983216. PMID: 33461409Free PMC Article
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
Mol Genet Metab 2013 Nov;110(3):231-6. Epub 2013 Jul 6 doi: 10.1016/j.ymgme.2013.06.021. PMID: 23890588
Scholl-Bürgi S, Sass JO, Zschocke J, Karall D
J Inherit Metab Dis 2012 Jan;35(1):65-70. Epub 2010 Nov 27 doi: 10.1007/s10545-010-9245-9. PMID: 21113738
Ahmed N, Ahmed U, Thornalley PJ, Hager K, Fleischer G, Münch G
J Neurochem 2005 Jan;92(2):255-63. doi: 10.1111/j.1471-4159.2004.02864.x. PMID: 15663474
Shalaby WS, Yeh H, Woo E, Corbett JT, Gray H, June CH, Shalaby SW
J Biomed Mater Res B Appl Biomater 2004 May 15;69(2):173-82. doi: 10.1002/jbm.b.20040. PMID: 15116407

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