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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

An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.
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
Common missense variant of monocarboxylate transporter 9 (MCT9/SLC16A9) gene is associated with renal overload gout, but not with all gout susceptibility.
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

The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.
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

Kinetics and thermogenesis of medium-chain monocarboxylic and dicarboxylic acids in man: sebacate and medium-chain triglycerides.
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

Common missense variant of monocarboxylate transporter 9 (MCT9/SLC16A9) gene is associated with renal overload gout, but not with all gout susceptibility.
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
Kinetics and thermogenesis of medium-chain monocarboxylic and dicarboxylic acids in man: sebacate and medium-chain triglycerides.
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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