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Decreased CSF arginine concentration

MedGen UID:
1705516
Concept ID:
C5139589
Finding
Synonym: Low arginine levels in cerebrospinal fluid
 
HPO: HP:0500204

Definition

Abnormally decreased levels of arginine 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).

Professional guidelines

PubMed

De Bellis MD, Gold PW, Geracioti TD Jr, Listwak SJ, Kling MA
Am J Psychiatry 1993 Apr;150(4):656-7. doi: 10.1176/ajp.150.4.656. PMID: 8465888

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
Geng CH, Wang C, Yang J, Wang H, Ma RQ, Liu X, Wang CH
Peptides 2017 Nov;97:8-15. Epub 2017 Sep 5 doi: 10.1016/j.peptides.2017.09.002. PMID: 28882471
Sabanci PA, Omay B, Aras Y, Aydoseli A, Ali A, Erdem T, Sencer A, Kiris T
J Neurol Surg A Cent Eur Neurosurg 2017 Nov;78(6):548-555. Epub 2017 Jun 8 doi: 10.1055/s-0036-1594005. PMID: 28597450
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
Jung CS, Lange B, Zimmermann M, Seifert V
Neurosci Lett 2012 Aug 22;524(1):20-4. Epub 2012 Jul 11 doi: 10.1016/j.neulet.2012.06.076. PMID: 22796469

Diagnosis

Nozuma S, Matsuura E, Tashiro Y, Nagata R, Ando M, Hiramatsu Y, Higuchi Y, Sakiyama Y, Hashiguchi A, Michizono K, Higashi K, Matsuzaki T, Kodama D, Tanaka M, Yamano Y, Moritoyo T, Kubota R, Takashima H
Ann Clin Transl Neurol 2023 Feb;10(2):237-245. Epub 2022 Dec 22 doi: 10.1002/acn3.51715. PMID: 36547017Free PMC Article
Krzystek-Korpacka M, Wiśniewski J, Fleszar MG, Bednarz-Misa I, Bronowicka-Szydełko A, Gacka M, Masłowski L, Kędzior K, Witkiewicz W, Gamian A
Oxid Med Cell Longev 2019;2019:5965721. Epub 2019 Jul 14 doi: 10.1155/2019/5965721. PMID: 31396302Free PMC Article
Sabanci PA, Omay B, Aras Y, Aydoseli A, Ali A, Erdem T, Sencer A, Kiris T
J Neurol Surg A Cent Eur Neurosurg 2017 Nov;78(6):548-555. Epub 2017 Jun 8 doi: 10.1055/s-0036-1594005. PMID: 28597450
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
Martens-Lobenhoffer J, Sulyok E, Czeiter E, Büki A, Kohl J, Firsching R, Tröger U, Bode-Böger SM
J Neurosci Methods 2007 Aug 15;164(1):155-60. Epub 2007 Apr 13 doi: 10.1016/j.jneumeth.2007.04.005. PMID: 17512604

Therapy

Nozuma S, Matsuura E, Tashiro Y, Nagata R, Ando M, Hiramatsu Y, Higuchi Y, Sakiyama Y, Hashiguchi A, Michizono K, Higashi K, Matsuzaki T, Kodama D, Tanaka M, Yamano Y, Moritoyo T, Kubota R, Takashima H
Ann Clin Transl Neurol 2023 Feb;10(2):237-245. Epub 2022 Dec 22 doi: 10.1002/acn3.51715. PMID: 36547017Free PMC Article
Kagerbauer SM, Martin J, Ulm B, Jungwirth B, Podtschaske AH
J Neuroendocrinol 2019 Oct;31(10):e12797. Epub 2019 Oct 14 doi: 10.1111/jne.12797. PMID: 31538678
Yang FJ, Ma L, Yang J, Zhu ZL, Wang CH
Pain Manag Nurs 2019 Apr;20(2):126-132. Epub 2018 Aug 3 doi: 10.1016/j.pmn.2018.06.001. PMID: 30082217
Geng CH, Wang C, Yang J, Wang H, Ma RQ, Liu X, Wang CH
Peptides 2017 Nov;97:8-15. Epub 2017 Sep 5 doi: 10.1016/j.peptides.2017.09.002. PMID: 28882471
Kornelisse RF, Hoekman K, Visser JJ, Hop WC, Huijmans JG, van der Straaten PJ, van der Heijden AJ, Sukhai RN, Neijens HJ, de Groot R
J Infect Dis 1996 Jul;174(1):120-6. doi: 10.1093/infdis/174.1.120. PMID: 8655981

Prognosis

Kagerbauer SM, Martin J, Ulm B, Jungwirth B, Podtschaske AH
J Neuroendocrinol 2019 Oct;31(10):e12797. Epub 2019 Oct 14 doi: 10.1111/jne.12797. PMID: 31538678
Krzystek-Korpacka M, Wiśniewski J, Fleszar MG, Bednarz-Misa I, Bronowicka-Szydełko A, Gacka M, Masłowski L, Kędzior K, Witkiewicz W, Gamian A
Oxid Med Cell Longev 2019;2019:5965721. Epub 2019 Jul 14 doi: 10.1155/2019/5965721. PMID: 31396302Free PMC Article
Jung CS, Lange B, Zimmermann M, Seifert V
Neurosci Lett 2012 Aug 22;524(1):20-4. Epub 2012 Jul 11 doi: 10.1016/j.neulet.2012.06.076. PMID: 22796469
Nagashima H, Nakamura Y, Kanno H, Sawai T, Inoue H, Yamauchi K
Allergol Int 2011 Sep;60(3):291-8. Epub 2011 Mar 25 doi: 10.2332/allergolint.10-OA-0259. PMID: 21430433
Martens-Lobenhoffer J, Sulyok E, Czeiter E, Büki A, Kohl J, Firsching R, Tröger U, Bode-Böger SM
J Neurosci Methods 2007 Aug 15;164(1):155-60. Epub 2007 Apr 13 doi: 10.1016/j.jneumeth.2007.04.005. PMID: 17512604

Clinical prediction guides

Nozuma S, Matsuura E, Tashiro Y, Nagata R, Ando M, Hiramatsu Y, Higuchi Y, Sakiyama Y, Hashiguchi A, Michizono K, Higashi K, Matsuzaki T, Kodama D, Tanaka M, Yamano Y, Moritoyo T, Kubota R, Takashima H
Ann Clin Transl Neurol 2023 Feb;10(2):237-245. Epub 2022 Dec 22 doi: 10.1002/acn3.51715. PMID: 36547017Free PMC Article
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
Kagerbauer SM, Martin J, Ulm B, Jungwirth B, Podtschaske AH
J Neuroendocrinol 2019 Oct;31(10):e12797. Epub 2019 Oct 14 doi: 10.1111/jne.12797. PMID: 31538678
Geng CH, Wang C, Yang J, Wang H, Ma RQ, Liu X, Wang CH
Peptides 2017 Nov;97:8-15. Epub 2017 Sep 5 doi: 10.1016/j.peptides.2017.09.002. PMID: 28882471
Nakamura S, Koshimura K, Kato T, Yamao S, Iijima S, Nagata H, Miyata S, Fujiyoshi K, Okamoto K, Suga H
Clin Ther 1984;7 Spec No:18-34. PMID: 6152197

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