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Increased aspartate family amino acid level in urine

MedGen UID:
1743943
Concept ID:
C5421607
Finding
HPO: HP:0033096

Definition

An elevated level of an aspartate family amino acid in the urine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased aspartate family amino acid level in urine

Recent clinical studies

Etiology

Bazyka DA, Bruslova KM, Liashenko LO, Pushkareva TI, Tsvyetkova NM, Galkina SG, Kondrashova VG, Yaroshenko ZS, Gonchar LO, Yatsemyrskyi SM, Trychlіb IV, Kavardakova NV, Boyarskyi VG, Chernysh TO, Lytvynets OM
Probl Radiac Med Radiobiol 2023 Dec;28:239-253. doi: 10.33145/2304-8336-2023-28-239-253. PMID: 38155126
Xu J, Jakher Y, Ahrens-Nicklas RC
Int J Mol Sci 2020 Oct 11;21(20) doi: 10.3390/ijms21207490. PMID: 33050626Free PMC Article
Liu Y, Burdon KP, Langefeld CD, Beck SR, Wagenknecht LE, Rich SS, Bowden DW, Freedman BI
J Am Soc Nephrol 2005 Apr;16(4):1085-90. Epub 2005 Mar 2 doi: 10.1681/ASN.2004100817. PMID: 15743995

Therapy

Weitz R, Merlob P, Amir J, Reisner SH
Arch Neurol 1981 Apr;38(4):258-9. doi: 10.1001/archneur.1981.00510040084017. PMID: 7213151
Leklem JE, Brown RR, Rose DP, Linkswiler HM
Am J Clin Nutr 1975 May;28(5):535-41. doi: 10.1093/ajcn/28.5.535. PMID: 1130311

Clinical prediction guides

Xu J, Jakher Y, Ahrens-Nicklas RC
Int J Mol Sci 2020 Oct 11;21(20) doi: 10.3390/ijms21207490. PMID: 33050626Free PMC Article
Broeks MH, Shamseldin HE, Alhashem A, Hashem M, Abdulwahab F, Alshedi T, Alobaid I, Zwartkruis F, Westland D, Fuchs S, Verhoeven-Duif NM, Jans JJM, Alkuraya FS
Hum Genet 2019 Dec;138(11-12):1247-1257. Epub 2019 Sep 19 doi: 10.1007/s00439-019-02063-z. PMID: 31538237
Joshi UM, Lahiri A, Kora S, Dikshit SS, Virkar K
Contraception 1975 Oct;12(4):425-36. doi: 10.1016/0010-7824(75)90078-5. PMID: 1192731

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