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Elevated urinary 3-hydroxybutyric acid

MedGen UID:
868023
Concept ID:
C4022414
Finding
HPO: HP:0040155

Definition

An increased amount of 3-hydroxybutyric acid in the urine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated urinary 3-hydroxybutyric acid

Conditions with this feature

Succinyl-CoA acetoacetate transferase deficiency
MedGen UID:
137979
Concept ID:
C0342792
Disease or Syndrome
Ketone bodies are major vectors of energy transfer from the liver to extrahepatic tissues and are the main source of lipid-derived energy for the brain. Mitchell et al. (1995) reviewed medical aspects of ketone body metabolism, including the differential diagnosis of abnormalities. As the first step of ketone body utilization, succinyl-CoA:3-oxoacid CoA transferase (SCOT, or OXCT1; EC 2.8.3.5) catalyzes the reversible transfer of CoA from succinyl-CoA to acetoacetate.
Methylmalonate semialdehyde dehydrogenase deficiency
MedGen UID:
481470
Concept ID:
C3279840
Disease or Syndrome
Methylmalonate semialdehyde dehydrogenase deficiency is a rare autosomal recessive inborn error of metabolism with a highly variable phenotype. Some patients may be asymptomatic, whereas others show global developmental delay, nonspecific dysmorphic features, and delayed myelination on brain imaging. Laboratory studies typically show increased urinary 3-hydroxyisobutyric acid, although additional metabolic abnormalities may also be observed (summary by Marcadier et al., 2013).
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
MedGen UID:
816734
Concept ID:
C3810404
Disease or Syndrome
Most children with carbonic anhydrase VA (CA-VA) deficiency reported to date have presented between day 2 of life and early childhood (up to age 20 months) with hyperammonemic encephalopathy (i.e., lethargy, feeding intolerance, weight loss, tachypnea, seizures, and coma). Given that fewer than 20 affected individuals have been reported to date, the ranges of initial presentations and long-term prognoses are not completely understood. As of 2021 the oldest known affected individual is an adolescent. Almost all affected individuals reported to date have shown normal psychomotor development and no further episodes of metabolic crisis; however, a few have shown mild learning difficulties or delayed motor skills.

Recent clinical studies

Etiology

Cohen CW, Fontaine KR, Arend RC, Alvarez RD, Leath CA III, Huh WK, Bevis KS, Kim KH, Straughn JM Jr, Gower BA
J Nutr 2018 Aug 1;148(8):1253-1260. doi: 10.1093/jn/nxy119. PMID: 30137481Free PMC Article
Zhou C, Yool AJ, Byard RW
J Forensic Sci 2017 Jul;62(4):921-925. Epub 2016 Dec 16 doi: 10.1111/1556-4029.13360. PMID: 27982446
Hongu N, Sachan DS
J Nutr 2003 Jan;133(1):84-9. doi: 10.1093/jn/133.1.84. PMID: 12514272
Steen G, Ransnäs L
Acta Neurol Scand 1983 Oct;68(4):231-40. doi: 10.1111/j.1600-0404.1983.tb04831.x. PMID: 6659864
Sherwin RS
Acta Chir Scand Suppl 1981;507:30-40. PMID: 6947662

Diagnosis

Waters PJ, Lace B, Buhas D, Gravel S, Cyr D, Boucher RM, Bernard G, Lévesque S, Maranda B
Mol Genet Genomic Med 2019 Dec;7(12):e1000. Epub 2019 Oct 26 doi: 10.1002/mgg3.1000. PMID: 31654490Free PMC Article
Cohen CW, Fontaine KR, Arend RC, Alvarez RD, Leath CA III, Huh WK, Bevis KS, Kim KH, Straughn JM Jr, Gower BA
J Nutr 2018 Aug 1;148(8):1253-1260. doi: 10.1093/jn/nxy119. PMID: 30137481Free PMC Article
Tse R, Garland J, Kesha K, Triggs Y, Yap Z, Stables S
Am J Forensic Med Pathol 2018 Sep;39(3):279-281. doi: 10.1097/PAF.0000000000000380. PMID: 29401111
De Kremer RD, Paschini-Capra A, Bacman S, Argaraña C, Civallero G, Kelley RI, Guelbert N, Latini A, Noher de Halac I, Giner-Ayala A, Johnston J, Proujansky R, Gonzalez I, Depetris-Boldini C, Oller-Ramírez A, Angaroni C, Theaux RA, Hliba E, Juaneda E
Am J Med Genet 2001 Mar 1;99(2):83-93. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1136>3.0.co;2-x. PMID: 11241464
Colle E, Mamer OA, Montgomery JA, Miller JD
Pediatr Res 1983 Feb;17(2):171-6. doi: 10.1203/00006450-198302000-00018. PMID: 6402754

Therapy

Wan SR, Teng FY, Fan W, Xu BT, Li XY, Tan XZ, Guo M, Gao CL, Zhang CX, Jiang ZZ, Xu Y
Aging (Albany NY) 2023 Nov 27;15(22):13384-13410. doi: 10.18632/aging.205248. PMID: 38015723
Cohen CW, Fontaine KR, Arend RC, Alvarez RD, Leath CA III, Huh WK, Bevis KS, Kim KH, Straughn JM Jr, Gower BA
J Nutr 2018 Aug 1;148(8):1253-1260. doi: 10.1093/jn/nxy119. PMID: 30137481Free PMC Article
Hongu N, Sachan DS
J Nutr 2003 Jan;133(1):84-9. doi: 10.1093/jn/133.1.84. PMID: 12514272
Lestan B, Walden K, Schmaltz S, Spychala J, Fox IH
J Lab Clin Med 1994 Aug;124(2):199-209. PMID: 8051483
Sherwin RS
Acta Chir Scand Suppl 1981;507:30-40. PMID: 6947662

Prognosis

Waters PJ, Lace B, Buhas D, Gravel S, Cyr D, Boucher RM, Bernard G, Lévesque S, Maranda B
Mol Genet Genomic Med 2019 Dec;7(12):e1000. Epub 2019 Oct 26 doi: 10.1002/mgg3.1000. PMID: 31654490Free PMC Article
Tse R, Garland J, Kesha K, Triggs Y, Yap Z, Stables S
Am J Forensic Med Pathol 2018 Sep;39(3):279-281. doi: 10.1097/PAF.0000000000000380. PMID: 29401111
Zhou C, Byard RW
J Forensic Sci 2017 Jan;62(1):122-125. Epub 2016 Dec 8 doi: 10.1111/1556-4029.13245. PMID: 27930814
Byard RW, Zhou C
Forensic Sci Med Pathol 2010 Dec;6(4):304-6. Epub 2010 Jul 15 doi: 10.1007/s12024-010-9183-8. PMID: 20632132

Clinical prediction guides

Waters PJ, Lace B, Buhas D, Gravel S, Cyr D, Boucher RM, Bernard G, Lévesque S, Maranda B
Mol Genet Genomic Med 2019 Dec;7(12):e1000. Epub 2019 Oct 26 doi: 10.1002/mgg3.1000. PMID: 31654490Free PMC Article
Zhou C, Yool AJ, Byard RW
J Forensic Sci 2017 May;62(3):681-685. Epub 2017 Jan 30 doi: 10.1111/1556-4029.13311. PMID: 28133737
De Kremer RD, Paschini-Capra A, Bacman S, Argaraña C, Civallero G, Kelley RI, Guelbert N, Latini A, Noher de Halac I, Giner-Ayala A, Johnston J, Proujansky R, Gonzalez I, Depetris-Boldini C, Oller-Ramírez A, Angaroni C, Theaux RA, Hliba E, Juaneda E
Am J Med Genet 2001 Mar 1;99(2):83-93. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1136>3.0.co;2-x. PMID: 11241464
Sherwin RS
Acta Chir Scand Suppl 1981;507:30-40. PMID: 6947662

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