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Elevated urinary monocarboxylic acid level

MedGen UID:
1781693
Concept ID:
C5539498
Finding
HPO: HP:0033303

Definition

Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group. [from HPO]

Recent clinical studies

Etiology

Lisyová J, Chandoga J, Jungová P, Repiský M, Knapková M, Machková M, Dluholucký S, Behúlová D, Šaligová J, Potočňáková Ľ, Lysinová M, Böhmer D
BMC Med Genet 2018 Apr 20;19(1):64. doi: 10.1186/s12881-018-0566-0. PMID: 29678161Free PMC Article
Nakayama A, Matsuo H, Shimizu T, Ogata H, Takada Y, Nakashima H, Nakamura T, Shimizu S, Chiba T, Sakiyama M, Ushiyama C, Takada T, Inoue K, Kawai S, Hishida A, Wakai K, Hamajima N, Ichida K, Sakurai Y, Kato Y, Shimizu T, Shinomiya N
Hum Cell 2013 Dec;26(4):133-6. Epub 2013 Aug 29 doi: 10.1007/s13577-013-0073-8. PMID: 23990105Free PMC Article

Diagnosis

Abplanalp J, Laczko E, Philp NJ, Neidhardt J, Zuercher J, Braun P, Schorderet DF, Munier FL, Verrey F, Berger W, Camargo SM, Kloeckener-Gruissem B
Hum Mol Genet 2013 Aug 15;22(16):3218-26. Epub 2013 Apr 10 doi: 10.1093/hmg/ddt175. PMID: 23578822Free PMC Article

Therapy

Mingrone G, Greco AV, Castagneto M, De Gaetano A, Tataranni PA, Raguso C
JPEN J Parenter Enteral Nutr 1993 May-Jun;17(3):257-64. doi: 10.1177/0148607193017003257. PMID: 8505832

Clinical prediction guides

Nakayama A, Matsuo H, Shimizu T, Ogata H, Takada Y, Nakashima H, Nakamura T, Shimizu S, Chiba T, Sakiyama M, Ushiyama C, Takada T, Inoue K, Kawai S, Hishida A, Wakai K, Hamajima N, Ichida K, Sakurai Y, Kato Y, Shimizu T, Shinomiya N
Hum Cell 2013 Dec;26(4):133-6. Epub 2013 Aug 29 doi: 10.1007/s13577-013-0073-8. PMID: 23990105Free PMC Article
Mingrone G, Greco AV, Castagneto M, De Gaetano A, Tataranni PA, Raguso C
JPEN J Parenter Enteral Nutr 1993 May-Jun;17(3):257-64. doi: 10.1177/0148607193017003257. PMID: 8505832

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