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Monocarboxylic aciduria

MedGen UID:
1841829
•Concept ID:
C5826562
•
Finding
HPO: HP:0034653

Definition

Level of a monocarboxylic acid in the urine above the upper limit of normal. A monocarboxylic acid is an oxoacid containing one carboxy group. [from HPO]

Recent clinical studies

Etiology

Differences of Uric Acid Transporters Carrying Extracellular Vesicles in the Urine from Uric Acid and Calcium Stone Formers and Non-Stone Formers.
Lin Z, Jayachandran M, Haskic Z, Kumar S, Lieske JC
Int J Mol Sci 2022 Sep 2;23(17) doi: 10.3390/ijms231710010. PMID: 36077407Free PMC Article

Diagnosis

Gas chromatographic profiling and determination of urinary acylcarnitines.
Kumps A, Duez P, Mardens Y
J Chromatogr B Biomed Appl 1994 Aug 19;658(2):241-8. doi: 10.1016/0378-4347(94)00252-5. PMID: 7820252
C6-C10-dicarboxylic aciduria: biochemical considerations in relation to diagnosis of beta-oxidation defects.
Gregersen N, Kølvraa S, Mortensen PB, Rasmussen K
Scand J Clin Lab Invest Suppl 1982;161:15-27. doi: 10.3109/00365518209168396. PMID: 6959231

Therapy

C6-C10-dicarboxylic aciduria: biochemical considerations in relation to diagnosis of beta-oxidation defects.
Gregersen N, Kølvraa S, Mortensen PB, Rasmussen K
Scand J Clin Lab Invest Suppl 1982;161:15-27. doi: 10.3109/00365518209168396. PMID: 6959231

Prognosis

C6-C10-dicarboxylic aciduria: biochemical considerations in relation to diagnosis of beta-oxidation defects.
Gregersen N, Kølvraa S, Mortensen PB, Rasmussen K
Scand J Clin Lab Invest Suppl 1982;161:15-27. doi: 10.3109/00365518209168396. PMID: 6959231

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