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Homocarnosinase deficiency

MedGen UID:
501202
Concept ID:
C3495554
Disease or Syndrome
Synonym: Homocarnosinosis
SNOMED CT: Homocarnosinase deficiency (61764000); Homocarnosinosis (61764000)

Recent clinical studies

Etiology

Sjaastad O, Blau N, Rydning SL, Peters V, Rødningen O, Stray-Pedersen A, Krossnes B, Tallaksen C, Koht J
Acta Neurol Scand 2018 Sep;138(3):245-250. Epub 2018 May 6 doi: 10.1111/ane.12949. PMID: 29732542
Peters V, Zschocke J, Schmitt CP
J Inherit Metab Dis 2018 Jan;41(1):39-47. Epub 2017 Oct 13 doi: 10.1007/s10545-017-0099-2. PMID: 29027595

Diagnosis

Sjaastad O, Blau N, Rydning SL, Peters V, Rødningen O, Stray-Pedersen A, Krossnes B, Tallaksen C, Koht J
Acta Neurol Scand 2018 Sep;138(3):245-250. Epub 2018 May 6 doi: 10.1111/ane.12949. PMID: 29732542
Peters V, Zschocke J, Schmitt CP
J Inherit Metab Dis 2018 Jan;41(1):39-47. Epub 2017 Oct 13 doi: 10.1007/s10545-017-0099-2. PMID: 29027595
Jansen EE, Gibson KM, Shigematsu Y, Jakobs C, Verhoeven NM
J Chromatogr B Analyt Technol Biomed Life Sci 2006 Jan 18;830(2):196-200. Epub 2005 Nov 22 doi: 10.1016/j.jchromb.2005.10.053. PMID: 16309980
Pearl PL, Gibson KM
Curr Opin Neurol 2004 Apr;17(2):107-13. doi: 10.1097/00019052-200404000-00005. PMID: 15021235
Jakobs C, Jaeken J, Gibson KM
J Inherit Metab Dis 1993;16(4):704-15. doi: 10.1007/BF00711902. PMID: 8412016

Therapy

Lunde HA, Gjessing LR, Sjaastad O
Neurochem Res 1986 Jun;11(6):825-38. doi: 10.1007/BF00965207. PMID: 3736769

Prognosis

Sjaastad O, Blau N, Rydning SL, Peters V, Rødningen O, Stray-Pedersen A, Krossnes B, Tallaksen C, Koht J
Acta Neurol Scand 2018 Sep;138(3):245-250. Epub 2018 May 6 doi: 10.1111/ane.12949. PMID: 29732542
Peters V, Zschocke J, Schmitt CP
J Inherit Metab Dis 2018 Jan;41(1):39-47. Epub 2017 Oct 13 doi: 10.1007/s10545-017-0099-2. PMID: 29027595
Pearl PL, Gibson KM
Curr Opin Neurol 2004 Apr;17(2):107-13. doi: 10.1097/00019052-200404000-00005. PMID: 15021235

Clinical prediction guides

Caruso G, Caraci F, Jolivet RB
Prog Neurobiol 2019 Apr;175:35-53. Epub 2018 Dec 26 doi: 10.1016/j.pneurobio.2018.12.004. PMID: 30593839

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